ABCMdb

PMID: 10767489

Kostuch M, Semczuk A, Szarewicz-Adamczyk W, Gasowska-Giszczak U, Wojcierowski J, Kulczycki L
Detection of CFTR gene mutations in patients suffering from chronic bronchitis.
Arch Med Res. 2000 Jan-Feb;31(1):97-100., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Patients were analyzed for the eight most common mutations of the CFTR gene (⌬F508, G542X, N1303K, 1717-1(GoA)), W1282X, G551D, R553X, and ⌬I507 by the reverse-hybridization method. Login to comment 7 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Patients were analyzed for the eight most common mutations of the CFTR gene (èc;F508, G542X, N1303K, 1717-1(GoA)), W1282X, G551D, R553X, and èc;I507 by the reverse-hybridization method. Login to comment 28 ABCC7 p.Gly551Asp It is noteworthy that we previously reported a case of a child suffering from cystic fibrosis conditioned by the ⌬F508/G551D genotype (14). Login to comment 29 ABCC7 p.Gly551Asp It is noteworthy that we previously reported a case of a child suffering from cystic fibrosis conditioned by the èc;F508/G551D genotype (14). Login to comment 57 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* These mutations include the following: ⌬F508; G542X; N1303K; 1717-1(GoA); W1282X; G551D; R553X, and ⌬I507. Login to comment 91 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Other rare CFTR gene mutations (R553X, G542X, G551D, N1303K, and 621af9;1G(T)) were excluded in their study. Login to comment 92 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Other rare CFTR gene mutations (R553X, G542X, G551D, N1303K, and 621ϩ1G(T)) were excluded in their study. Login to comment