PMID: 7562977

Mittre H, Leymarie P, Leporrier N
High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.
J Med Genet. 1995 Jul;32(7):577., [PubMed]
Sentences
No. Mutations Sentence Comment
5 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7562977:5:92
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 7562977:5:157
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7562977:5:106
status: NEW
view ABCC7 p.Gly542* details
 The other most common mutations observed in our study with a frequency higher than 1% were: G551D (2 4%), G542X (2-4%), 574delA (1-2%), 3659delC (1-2%), and N1303K (1-2%). Login to comment