ABCMdb

PMID: 7508183

Desgeorges M, Kjellberg P, Demaille J, Claustres M
A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene.
Am J Hum Genet. 1994 Feb;54(2):384-5., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Phe508Cys ABCC7 p.Phe508Cys Among them, the substitution of cysteine for phenylalanine 508, named "F508C" (Kobayashi et al. 1990) or 1655 T or G (Cystic Fibrosis Genetic Analysis Consortium, unpublished results), is ofparticular interest both because ofitsphysio- logical significance and because it can cause pitfalls in molecular diagnosis. Login to comment 10 ABCC7 p.Phe508Cys Four other compound heterozygous persons AF508/F508C have been reported in this Journal (Kobayashi et al. 1990; Macek et al. 1992; Meschede et al. 1993). Login to comment 12 ABCC7 p.Phe508Cys The case described here makes it unlikely that, as concluded by Meschede et al. (1993), the combined trans and cis configuration of AF508, F508C, and M470V could contribute to the CBAVD phenotype. Login to comment 13 ABCC7 p.Phe508Cys AF508 AM508 A-'o0 AF508 A1507 AF508 F508C AF50O M470V Figure I Letters to the Editor MARIE DESGEORGES, PAULE KJELLBERG, JACQUES DEMAILLE, AND MIREILLE CLAUSTRES Laboratoire de Biochimie Genitique Institut de Biologie Montpellier Acknowledgment This work was supported by a grant from the French Association against Cystic Fibrosis (Association Franqaise contre la Mucoviscidose; AFLM). Login to comment