PMID: 12483292

Mekus F, Laabs U, Veeze H, Tummler B
Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.
Hum Genet. 2003 Jan;112(1):1-11. Epub 2002 Oct 3., [PubMed]
Sentences
No. Mutations Sentence Comment
11 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12483292:11:38
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12483292:11:50
status: NEW
view ABCC7 p.Gly542* details
 The frequent CFTR mutations, F508del, N1303K, and G542X, are associated with several intragenic STRP haplotypes, but occur on the same flanking SNP haplotype (Dörk et al. 1992; Sereth et al. 1993; Morral et al. 1993; Cuppens et al. 1994; Morral et al. 1996). Login to comment