PMID: 7541969

Tizzano EF, Buchwald M
CFTR expression and organ damage in cystic fibrosis.
Ann Intern Med. 1995 Aug 15;123(4):305-8., [PubMed]
Sentences
No. Mutations Sentence Comment
36 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 7541969:36:34
status: NEW
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 For example, a missense mutation (R117H), observed in persons with one of three phenotypes (asymptomatic persons, patients with pancreatic-sufficient cystic fibrosis, and patients with congenital bilateral absence of the vas deferens), occurs on two chromosome backgrounds that lead to the three different phenotypes (14). Login to comment 78 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 7541969:78:149
status: NEW
view ABCC7 p.Arg117His details
 In the case of pancreatic disease, a clear correlation has been shown between genotype and phenotype, with a specific set of mutations (for example, R117H) leading to pancreatic sufficiency and the rest, including DF508, to pancreatic insufficiency. Login to comment