PMID: 15832355

Castellani C, Picci L, Scarpa M, Dechecchi MC, Zanolla L, Assael BM, Zacchello F
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.
Am J Med Genet A. 2005 Jun 1;135(2):142-4., 2005-06-01 [PubMed]
Sentences
No. Mutations Sentence Comment
15 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15832355:15:117
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15832355:15:110
status: NEW
view ABCC7 p.Trp1282* details
The genetic analysis detected 4 affected (F508del/F508del; F508del/1717-1G > A; 2183AA > G/711 þ 5G > A; W1282X/R117H; CF incidence 1/ 2,500) and 294 heterozygous infants (carrier frequency 1/34) (Table I). Login to comment
22 ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15832355:22:6
status: NEW
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A and G85E were not included in any of these two subgroups as they are inconsistently linked to pancreatic sufficiency. Login to comment
23 ABCC7 p.Arg334Gln
X
ABCC7 p.Arg334Gln 15832355:23:271
status: NEW
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A similar comparison was made between two subgroups including, respectively, 247 carriers of class I, II, and III mutations (in fact the same as in the pancreatic insufficiency mutation group) and 43 carriers of class IV and V mutations [Welsh and Smith, 1993]; mutation R334Q was not included because of difficulties in allocating it to a specific class. Login to comment
40 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15832355:40:256
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15832355:40:399
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15832355:40:292
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 15832355:40:506
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15832355:40:193
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15832355:40:213
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 15832355:40:273
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15832355:40:310
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15832355:40:796
status: NEW
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ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 15832355:40:473
status: NEW
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ABCC7 p.Gln552*
X
ABCC7 p.Gln552* 15832355:40:382
status: NEW
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ABCC7 p.Arg334Gln
X
ABCC7 p.Arg334Gln 15832355:40:367
status: NEW
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ABCC7 p.Arg334Gln
X
ABCC7 p.Arg334Gln 15832355:40:838
status: NEW
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ABCC7 p.Arg709*
X
ABCC7 p.Arg709* 15832355:40:489
status: NEW
view ABCC7 p.Arg709* details
Distribution and Classification of the Tested Mutations in the Normal IRT Heterozygote Population Under Study Mutations Type of mutation Class of mutation Number of cases F508del Severe II 161 N1303K Severe II 19 G542X Severe I 19 711 þ 5G > A - V 15 R117H Mild IV 13 R1162X Severe I 13 R553X Severe I 11 G85E - IV 8 2183AA > G Severe I 8 1717-1G > A Severe I 8 R334Q Mild - 4 Q552X Severe I 4 W1282X Severe I 3 2789 þ 5G > A Mild V 2 1898 þ 3A > G Mild V 2 T338I Mild IV 1 R709X Severe I 1 R347H Mild IV 1 3849 þ 10KbC > T Mild V 1 Total 294 Other tested mutations: 1078delTn1609delCAn1717-8g/an394delTTn457TAT> Gn541delCn621 þ 1g/tn711 þ 1g/tnA559TnDI507nG551DnR1158XnR334Wn R347PnR352QnS549InS549NnS549Ra/cn2790-2G > An1811 þ 1.2KbA > G; 711þ5G > A and G85E not categorized in type of mutation; R334Q not categorized in class of mutation. Login to comment