ABCMdb

PMID: 7516233

Culard JF, Desgeorges M, Romey MC, Malzac P, Demaille J, Claustres M
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
Hum Mol Genet. 1994 Feb;3(2):369-70., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Arg117His ABCC7 p.Arg347His Some of these are compound heterozygotes for AF508 and missense mutations such as R117H or R347H (2-4), which are known to be associated with mild forms of CF. Login to comment