PMID: 7687986

Ezquieta B, Molano J
CF2603/4delT, a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Hum Genet. 1993 Jul;91(6):614-5., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7687986:8:157
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7687986:8:149
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 7687986:8:141
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7687986:8:126
status: NEW
view ABCC7 p.Gly542* details
 The most frequent of these mutations account for as much as 20% of the non-AF508 mutations in the Spanish CF population (e.g. G542X, RII62X, N1303K, W1282X, G551D; Nunes et al. 1991). Login to comment