Article
Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Strom Charles M, Huang Donghui, Chen Christina, Buller Arlene, Peng Mei, Quan Franklin, Redman Joy, Sun Weimin
Abstract excerpt
PURPOSE: To develop a sequencing assay for the gene to identify mutations in patients with cystic fibrosis (CF). METHODS: An automated assay format was developed to sequence all exons and splice junctional sequences, the promotor region, and parts of introns 11 and 19. RESULTS: After validating the assay using 20 known samples, DNA of seven patients, four of whom were heterozygous for a known CF mutation, was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.