ABCMdb

PMID: 8723695

Bienvenu T, Chertkoff L, Beldjord C, Segal E, Carniglia L, Barreiro C, Kaplan JC
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.
Hum Mutat. 1996;7(4):376-7., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Gly1061Arg By analysing DNA changes in CFTR gene of CF Argentinian patients, we identified three novel mutations: 1460 del AT in exon 9,2566 insT in exon 13, and G1061R in exon 17b. Login to comment 27 ABCC7 p.Gly1061Arg G1061R The nucleotide variation was a G-tA at position 3313 in exon 17b, which leads to an arginine instead of a glycineat codon 1061. Login to comment 42 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* In addition, none of the most common CF mutations (G542X, G551D, W1282X, N1303K, R553X, 1717-1G>A, R1162X, 81507) were present in this series. Login to comment