ABCMdb

PMID: 18797695

Vidigal PV, Reis FJ, Boson WL, De Marco LA, Brasileiro-Filho G
p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil.
Braz J Med Biol Res. 2008 Aug;41(8):643-7., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Among the various CF mutations, a deletion of 3 bp at codon 508 (p.F508del) is the most frequent accounting for two-thirds of the global CFchromosomes.Only4othermutations(G542X,N1303K, G551D, and W1282X) have overall frequencies above 1% among CF chromosomes. Login to comment 89 ABCC7 p.Asn1303Lys Similarly, Goloni-Bertollo et al. (20), seeking 32 mutations of the CFTR gene in nine unrelated patients from the State of S&#e3;o Paulo, found none of these 32 mutations (they have detected only p.F508del and N1303K). Login to comment