PMID: 18535191

Adler AI, Shine BS, Chamnan P, Haworth CS, Bilton D
Genetic determinants and epidemiology of cystic fibrosis-related diabetes: results from a British cohort of children and adults.
Diabetes Care. 2008 Sep;31(9):1789-94. Epub 2008 Jun 5., [PubMed]
Sentences
No. Mutations Sentence Comment
54 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 18535191:54:382
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 18535191:54:437
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 18535191:54:233
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 18535191:54:226
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 18535191:54:389
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 18535191:54:406
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 18535191:54:338
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18535191:54:219
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 18535191:54:241
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 18535191:54:396
status: NEW
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ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 18535191:54:350
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 18535191:54:371
status: NEW
view ABCC7 p.Arg560Thr details
 Genotypes associated with cystic fibrosis were coded into five established classes reflecting CFTR function of defective production, processing, regulation, conductance, and quantity of CFTR protein (12) as follows: I: G542X, R553X, W1282X, R1162X, 621-1G3T, 1717- 1G3 A, 1078⌬T, and 3659⌬C; II: ⌬F508, ⌬I507, N1303K, and S549N; III: G551Dand R560T; IV: R117H, R334W, G85E, and R347P; V: 3849ϩ5G3A, and A455E; and unknown: 711ϩIG3 T, 2184DA, and 1898ϩIG3 A. Login to comment