PMID: 8592345

Bienvenu T, Beldjord C, Kaplan JC, Hubert D, Dusser D
Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.
J Med Genet. 1995 Nov;32(11):919., [PubMed]
Sentences
No. Mutations Sentence Comment
24 ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 8592345:24:131
status: NEW
view ABCC7 p.Arg334Trp details
 5 Estivill X, Ortigosa L, Perez-Frias J, et al. Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences. Login to comment 26 ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 8592345:26:83
status: NEW
view ABCC7 p.Arg334Trp details
 Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences. Login to comment