Article
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Rohlfs Elizabeth M, Zhou Zhaoqing, Sugarman Elaine A, Heim Ruth A, Pace Rhonda G, Knowles Michael R, Silverman Lawrence M, Allitto Bernice A
Abstract excerpt
PURPOSE: To determine whether intragenic changes modulate the cystic fibrosis (CF) phenotype in individuals who are positive for the I148T allele. METHODS: The genes from individuals who carried at least one copy of the I148T allele were analyzed for additional changes that may be acting as genetic modifiers. RESULTS: Seven of eight individuals with a known or suspected diagnosis of CF who carried I148T in...
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