PMID: 11101688

Jezequel P, Dubourg C, Le Lannou D, Odent S, Le Gall JY, Blayau M, Le Treut A, David V
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.
Mol Hum Reprod. 2000 Dec;6(12):1063-7., [PubMed]
Sentences
No. Mutations Sentence Comment
2 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:2:95
status: NEW
view ABCC7 p.Arg117His details
The genotype of these patients includes mutations in the CFTR gene, e.g. ∆∆F508, R117H and the T5 allele; all of which are commonly found in CAVD. Login to comment
4 ABCC7 p.Leu1227Ser
X
ABCC7 p.Leu1227Ser 11101688:4:93
status: NEW
view ABCC7 p.Leu1227Ser details
Among the 94 chromosomes studied, 65 mutations, of which three are novel (2789⍣2insA, L1227S, 4428insGA), were identified. Login to comment
6 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:6:102
status: NEW
view ABCC7 p.Arg117His details
Furthermore, high frequencies of the ∆∆F508 mutation (44.7%), the T5 allele (36.2%) and R117H mutation (19.1%) were observed. Login to comment
13 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:13:349
status: NEW
view ABCC7 p.Arg117His details
It is that infertility in adults with CF mutations is probably due toorganized in two membrane spanning domains, TMD1 and degeneration of the reproductive ducts.TMD2, each containing six transmembrane segments desig- The most common mutations found in isolated CAVDnated m1-m12, two nucleotide binding domains, NBD1 and phenotypes are ∆F508, R117H and the T5 allele (IVS8-T5)NBD2 (Riordan et al., 1989), and a cytoplasmic regulatory (Chillon et al., 1995; Jarvi et al., 1995). Login to comment
25 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:25:103
status: NEW
view ABCC7 p.Arg117His details
Furthermore, conditions for all the exons and DGGE was performed in a CBS the phenotypic expression of R117H has previously been Scientific apparatus (CA, USA), The DGGE conditions have been shown to be modulated by the polymorphic Tn locus. Login to comment
26 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:26:70
status: NEW
view ABCC7 p.Arg117His details
If an described elsewhere (Fanen et al., 1992; Bienvenu et al., 1995; R117H CFTR gene harbours a T5 allele, the mutant gene will Je´ze´quel et al., 1995). Login to comment
28 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:28:3
status: NEW
view ABCC7 p.Arg117His details
An R117H mutant CFTR gene that pattern of migration was further analysed by direct sequencing on an harbours a T7 allele can either result in CF or CAVD automatic ABI 373A DNA sequencer with the ABI prism dye (Kiesewetter et al., 1993). Login to comment
40 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:40:27
status: NEW
view ABCC7 p.Arg117His details
No sputum microbiology was R117H showed a high frequency (9/47 ϭ 19.1%). Login to comment
42 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:42:34
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:42:56
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:42:174
status: NEW
view ABCC7 p.Arg117His details
The eight chromosomes bearing the R117H mutation, five [R117H; results of sweat chloride analysis and additional clinical data on the (TG)10T7] haplotypes (62.5%) and three [R117H;(TG)11T7] patients are listed in Table I. Sweat chloride levels were determined haplotypes (37.5%) were found. Login to comment
43 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:43:17
status: NEW
view ABCC7 p.Arg117His details
In one case the [R117H; in 21 patients. Login to comment
45 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:45:0
status: NEW
view ABCC7 p.Arg117His details
R117H was always chloride of Ͼ70 mmol/l (Hall et al., 1990). Login to comment
47 ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:47:81
status: NEW
view ABCC7 p.Arg1070Trp details
a sweat chloride level of Ͼ70 mmol/l did not show any pulmonary Except for R1070W in exon 17b (four out of 47 ϭ 8.5%)or gastrointestinal symptoms of CF. Login to comment
48 ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:48:36
status: NEW
view ABCC7 p.Leu375Phe details
In all, 11 patients had a sweat and L375F in exon 8 (two out of 47 ϭ 4.25%), all the otherchloride level of Ͻ40 mmol/l, and seven patients were in the mutations (11 out of 47 ϭ 23.4%) were found only once. Login to comment
50 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:50:32
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:50:39
status: NEW
view ABCC7 p.Arg1070Trp details
ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:50:50
status: NEW
view ABCC7 p.Leu375Phe details
total, ∆F508, T5 allele, R117H, R1070W and L375F representNone had undergone abdominal ultrasonography or excretory 83% of the mutation types in our cohort. Login to comment
53 ABCC7 p.Leu1227Ser
X
ABCC7 p.Leu1227Ser 11101688:53:74
status: NEW
view ABCC7 p.Leu1227Ser details
Genetic analysis Three novel mutations were identified: 2789ϩ2insA, L1227S and 4428insGA. Login to comment
54 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:54:216
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11101688:54:189
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:54:195
status: NEW
view ABCC7 p.Arg1070Trp details
The three men with CUAVD wereTotal genomic DNA was isolated from the patients` peripheral blood cells and analysed for mutations in the whole CFTR region and splice compound heterozygotes (G542X/R1070W, ∆F508/R117H, junctions. Login to comment
55 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11101688:55:60
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:55:54
status: NEW
view ABCC7 p.Leu375Phe details
Chromosomes were first tested for the presence of the L375F/G551D). Login to comment
60 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11101688:60:1106
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11101688:60:2212
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:884
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:933
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:966
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:1211
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:1348
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:1642
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:1940
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:1992
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:60:2170
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11101688:60:2116
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11101688:60:1610
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:60:1572
status: NEW
view ABCC7 p.Arg1070Trp details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:60:1695
status: NEW
view ABCC7 p.Arg1070Trp details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:60:1740
status: NEW
view ABCC7 p.Arg1070Trp details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:60:2122
status: NEW
view ABCC7 p.Arg1070Trp details
ABCC7 p.Leu1227Ser
X
ABCC7 p.Leu1227Ser 11101688:60:697
status: NEW
view ABCC7 p.Leu1227Ser details
ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:60:1648
status: NEW
view ABCC7 p.Leu375Phe details
ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:60:2206
status: NEW
view ABCC7 p.Leu375Phe details
ABCC7 p.Ile980Lys
X
ABCC7 p.Ile980Lys 11101688:60:2068
status: NEW
view ABCC7 p.Ile980Lys details
ABCC7 p.Ala1067Val
X
ABCC7 p.Ala1067Val 11101688:60:1305
status: NEW
view ABCC7 p.Ala1067Val details
Tworegions (1, 2, 5, 6a, 6b, 7, 10, 11, 12, 14a, 14b, 15, 16, 17a, 17b, 18, 20, 22, 23, 24) were amplified with a GC-clamp primer and six exons mutations were found in 31.9% of patients, 31.9% had one Table I. Summary of the clinical and biological findings of a population of men with congenital bilateral absence of the vas deferens (CBAVD, n ϭ 37), congenital unilateral absence of the vas deferens (CUAVD, n ϭ 3) and obstructive azoospermia (Obs A, n ϭ 7) Patient Phenotype Surgical Age Weight Height Sweat test Other clinical CFTR exploration (years) (kg) (m) (Cl- mEq/l) manifestation genotype 1 CBAVD ϩ 40 63 1.72 72 ∆F508/T5 2 CBAVD ϩ 31 66 1.76 40 L1227S/3272-26A→G 3 CBAVD ϩ 29 ∆F508/T5 4 CBAVD 29 sinusitis -/- 5 CBAVD 32 50 1.60 ∆F508/T5 6 CBAVD 35 64 1.66 ∆F508/T5 7 CBAVD ϩ 28 ∆F508/R117H 8 CBAVD ϩ 34 69 1.80 24 ∆F508/R117H 9 CBAVD ϩ 35 65 1.70 R117H/T5 10 CBAVD ϩ 32 50 1.70 31 asthma ∆F508/T5 11 CBAVD ϩ 26 left hydrocele T5/- 12 CBAVD ϩ 23 left varicocele, G551D/T5 asthma, anosmia 13 CBAVD ϩ 29 ∆F508/T5 14 CBAVD ϩ 36 63 1.64 52 ∆F508/R117H 15 CBAVD ϩ 37 60 1.76 ∆F508/T5 16 CBAVD ϩ 34 70 1.65 24 ∆F508/A1067V 17 CBAVD 35 61 1.73 42 ∆F508/R117H 18 CBAVD 25 72 1.82 86 2183AA→G/T5 19 CBAVD 28 88 1.76 7 -/- 20 CBAVD ϩ 29 ∆F508/T5 21 CBAVD 31 48 epididymite -/- 22 CBAVD 28 ∆F508/T5 23 CBAVD ϩ 32 68 1.76 36 flatulence ∆F508/R1070W 24 CBAVD ϩ 31 64 1.76 39 R1162X/T5 25 CBAVD 30 17 asthma R117H/L375F 26 CBAVD ϩ 36 62 1.70 ∆F508/R1070W 27 CBAVD 30 6 -/- 28 CBAVD 35 85 1.70 R1070W/- 29 CBAVD 39 bronchectasis -/- 30 CBAVD ϩ 29 ∆F508/- 31 CBAVD 31 bronchectasis, -/- deafness 32 CBAVD ϩ 26 asthma, otitis -/- 33 CBAVD ϩ 28 allergy -/- 34 CBAVD 37 36 R117H/- 35 CBAVD 33 -/- 36 CBAVD ϩ 30 64 1.68 R117H/T5 37 CBAVD ϩ 37 71 1.78 31 pancreatitis, 621ϩ1G→T/I980K alcoholism 38 CUAVD 43 62 1.68 40 allergy G542X/R1070W 39 CUAVD ϩ 35 allergy ∆F508/R117H 40 CUAVD ϩ 34 hydrocele L375F/G551D 41 Obs A ϩ 32 26 T5/- 42 Obs A 23 60 sinusitis ∆F508/2789ϩ2insA 43 Obs A ϩ 25 80 sinusitis, chronic ∆F508/4428insGA 44 Obs A ϩ 30 bronchitis -/- anosmia 45 Obs A 29 50 -/- 46 Obs A 29 75 1.77 ∆F508/T5 47 Obs A ϩ 30 82 1.66 -/- mutation and the T5 allele, 10.7% had only one mutation and clinical palpation. Login to comment
71 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:71:61
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:71:100
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:71:195
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:71:300
status: NEW
view ABCC7 p.Arg117His details
This 25-year-old man (no. 43) with obstructive7 ∆F508/R117H (TG)10T9/(TG)10T7 8 ∆F508/R117H (TG)10T9/(TG)10T7 azoospermia who underwent surgical exploration had two 14 ∆F508/R117H (TG)10T9/(TG)10T7 hypoplastic vas deferens and bilateral aplasia of the epididymal 17 ∆F508/R117H (TG)10T9/(TG)10T7 cauda. Login to comment
72 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:72:69
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:72:109
status: NEW
view ABCC7 p.Arg1070Trp details
In addition, he had an elevated sweat test (80 mEq/l)39 ∆F508/R117H (TG)10T9/(TG)11T7 23 ∆F508/R1070W (TG)10T9/(TG)10T7 and sinusitis. Login to comment
73 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11101688:73:610
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:73:406
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11101688:73:511
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:73:66
status: NEW
view ABCC7 p.Arg1070Trp details
ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:73:517
status: NEW
view ABCC7 p.Arg1070Trp details
ABCC7 p.Leu1227Ser
X
ABCC7 p.Leu1227Ser 11101688:73:745
status: NEW
view ABCC7 p.Leu1227Ser details
ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:73:412
status: NEW
view ABCC7 p.Leu375Phe details
ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:73:604
status: NEW
view ABCC7 p.Leu375Phe details
ABCC7 p.Ile980Lys
X
ABCC7 p.Ile980Lys 11101688:73:659
status: NEW
view ABCC7 p.Ile980Lys details
ABCC7 p.Ala1067Val
X
ABCC7 p.Ala1067Val 11101688:73:165
status: NEW
view ABCC7 p.Ala1067Val details
This mutation creates a stop codon 43 nucleotides 26 ∆F508/R1070W (TG)10T9/(TG)10T7 downstream leading to the deletion of 33 C-terminus amino 16 ∆F508/A1067V (TG)10T9/(TG)10T7 acids of the CFTR protein including the TRL-COOH domain.42 ∆F508/2789ϩ2insA (TG)10T9/(TG)10T7 43 ∆F508/4428insGA (TG)10T9/(TG)11T7 This highly conserved proteic site is a perfect match for the 25 R117H/L375F (TG)10T7/(TG)10T7 binding consensus domain of the Naϩ-Hϩ exchanger regulatory 38 G542X/R1070W (TG)10T9/(TG)11T7 factor (NHE-RF), a cytoplasmic phosphoprotein that may play40 L375F/G551D (TG)10T7/(TG)10T7 37 621ϩ1G→T/I980K (TG)10T9/(TG)10T9 an important regulatory role in CFTR function (Wang et al., 2 L1227S/3272-26A→G (TG)10T9/(TG)12T7 1998). Login to comment
74 ABCC7 p.Ser1455*
X
ABCC7 p.Ser1455* 11101688:74:152
status: NEW
view ABCC7 p.Ser1455* details
Other authors (Mickle et al., 1998; Moyer et al., 1999) One mutation detected and one T5 allele (15/47 ϭ 31.9%) have demonstrated that a nonsense S1455X mutation in exon 1 ∆F508/- (TG)10T9/(TG)12T5 24 encoded a truncated version of the CFTR protein which 3 ∆F508/- (TG)10T9/(TG)12T5 missed the last 26 amino acids and mispolarized to the lateral5 ∆F508/- (TG)10T9/(TG)12T5 6 ∆F508/- (TG)10T9/(TG)12T5 membrane of epithelia. Login to comment
75 ABCC7 p.Ser1455*
X
ABCC7 p.Ser1455* 11101688:75:76
status: NEW
view ABCC7 p.Ser1455* details
The child and mother bearing the 10 ∆F508/- (TG)10T9/(TG)12T5 del14a/S1455X genotype were clinically well but had consist-13 ∆F508/- (TG)10T9/(TG)13T5 ently elevated sweat chloride concentrations (74 mmol/l). Login to comment
77 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:77:114
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:77:143
status: NEW
view ABCC7 p.Arg117His details
The 4428insGA 22 ∆F508/- (TG)10T9/(TG)12T5 may, therefore, be considered as a mild allele responsible for9 R117H/- (TG)11T7/(TG)13T5 36 R117H/- (TG)11T7/(TG)12T5 elevated sweat test and obstructive azoospermia. Login to comment
78 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11101688:78:3
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:78:420
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11101688:78:180
status: NEW
view ABCC7 p.Arg1162* details
12 G551D/- (TG)10T9/(TG)13T5 These three novel mutations have not been found in more 18 2183AA→G/- (TG)10T7/(TG)12T5 than 200 non-CF chromosomes and in a sample of 300 CF24 R1162X/- (TG)10T9/(TG)12T5 chromosomes from local classical CF patients, nor were theyOne mutation detected without T5 allele (3/47 ϭ 6.4%) reported by any other member of the CF Genetic Analysis30 ∆F508/- (TG)10T9/(TG)10T7 34 R117H/- (TG)12T7/(TG)10T7 Consortium. Login to comment
79 ABCC7 p.Arg1070Trp
X
ABCC7 p.Arg1070Trp 11101688:79:50
status: NEW
view ABCC7 p.Arg1070Trp details
Under these circumstances, polymorphisms could 28 R1070W/- (TG)11T7/(TG)10T7 be ruled out. Login to comment
80 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11101688:80:389
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11101688:80:517
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:80:86
status: NEW
view ABCC7 p.Leu375Phe details
No mutation detected with one T5 allele (2/47 ϭ 4.3%) A rare missense mutation, L375F, first described elsewhere 41 -/- (TG)11T5/(TG)11T7 (Je´ze´quel et al., 1996) and located in exon 8 which codes for11 -/- (TG)11T5/(TG)11T7 a cytoplasmic region between the m6 transmembrane domainNo mutation detected (12/47 ϭ 25.5%) and NBD1, was found twice, once associated with G551D in4 -/- nd 44 -/- (TG)12T7/(TG)10T7 a CUAVD phenotype (no. 40) surgically explored and once 19 -/- (TG)11T7/(TG)11T7 with R117H in a CBAVD phenotype (no. 25) clinically45 -/- (TG)11T7/(TG)10T7 diagnosed in a 30-year-old man with a normal sweat test21 -/- (TG)11T7/(TG)11T7 27 -/- (TG)11T7/(TG)10T7 (17 mEq/l) and asthma. Login to comment
82 ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:82:208
status: NEW
view ABCC7 p.Leu375Phe details
Subsequently, this mutation was31 -/- (TG)12T7/(TG)12T7 32 -/- (TG)11T9/(TG)10T7 found in a German family in which two brothers were 33 -/- (TG)11T7/(TG)11T7 ascertained as having CBAVD with the ∆F508/L375F CFTR35 -/- (TG)10T9/(TG)10T7 genotype (Do¨rk et al., 1997). Login to comment
92 ABCC7 p.Leu1227Ser
X
ABCC7 p.Leu1227Ser 11101688:92:6
status: NEW
view ABCC7 p.Leu1227Ser details
Since L1227S was associated with the 3272-26A→G mild mutation, it is difficult to judge the possibility of CF mutations in close relatives, for whom the Kanavakis, E., Tzetis, M., Antoniadi, T. et al. (1998) Cystic fibrosis mutationrisk of having a child presenting a pathological CFTR-mediated screening in CBAVD patients and men with obstructive azoospermia or phenotype is higher than for the general population. Login to comment
106 ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 11101688:106:134
status: NEW
view ABCC7 p.Phe508Cys details
Meschede, D., Eigel, A., Horst, J. et al. (1993) Compound heterozygosity for J. Am. Med. Assoc., 267, 1794-1797. the ∆F508 and F508C cystic fibrosis transmembrane conductance regulator Beck, S., Penque, D., Garcia, S. et al. (1999) Cystic fibrosis patients with the (CFTR) mutations in a patient with congenital bilateral aplasia of the vas 3272-26A→G mutation have mild disease, leaky alternative mRNA deferens. Am. J. Hum. Genet., 53, 292-293. splicing, and CFTR protein at the cell membrane. Login to comment
157 ABCC7 p.Leu375Phe
X
ABCC7 p.Leu375Phe 11101688:157:122
status: NEW
view ABCC7 p.Leu375Phe details
Je´ze´quel, P., Chauvel, B., Le Treut, A. et al. (1996) Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype. Login to comment