PMID: 7540587

Bienvenu T, Lacronique V, Raymondjean M, Cazeneuve C, Hubert D, Kaplan JC, Beldjord C
Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect.
Hum Genet. 1995 Jun;95(6):698-702., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7540587:20:94
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 7540587:20:105
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 7540587:20:227
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 7540587:20:347
status: NEW
view ABCC7 p.Ile148Thr details
 Materials and methods Patients Some 29 CF patients (19 AF508/X, 1 1717-1G->A/X, 1 GI061R/X, 1 R553X/X, 1 R334W/X and 6 X/X; X = unidentified mutation), 10 men with congenital bilateral absence of the vas deferens (3 AF508/X, 1 N1303K/X, 1 SI235R/X, 1Q1291R/X and4 X/X) and I6 subjects with chronic pulmonary disease suggestive of CF (1 AF508/X, 1 I148T/X and 14 X/X) were included in this study. Login to comment