Article
Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Buller Arlene, Olson Susan, Redman Joy B, Hantash Feras, Chen Rebecca, Strom Charles M
Abstract excerpt
PURPOSE: To determine the carrier frequency of the 3199del6 cystic fibrosis (CF) mutation in individuals heterozygous for I148T in a large-scale CF testing population. METHODS: DNA samples from 439 consecutive I148T-heterozygous individuals were screened for the 3199del6 mutation using a laboratory-developed test. RESULTS: Genotyping revealed four samples heterozygous for the 3199del6 mutation (0.9%). The four...
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