ABCMdb

PMID: 8803789

Nemeth K, Fekete G, Kiss E, Varadi A, Holics K, Ujhelyi R
Analysis of five CFTR mutations in Hungarian cystic fibrosis patients.
J Inherit Metab Dis. 1996;19(3):378., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Budapest; 3Children's Hospital Helm Pill, Budapest, Hungary *Correspondence Four hundred and fifty-eight cystic fibrosis (CF; McKusick 219700) patients, aged 6 months to 19 years old were screened for mutations AF508, G542X, G551D, R553X and N1303K. Login to comment 14 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Mutation G542X was identified in 14 (3.0%), mutation R553X in 6 probands (1.3%); 7 patients (1.5%) were heterozygous for mutation N1303K. Login to comment 15 ABCC7 p.Gly551Asp Mutation G551D was not detected. Login to comment