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Article

Three Novel CFTR Polymorphic Repeats Improve Segregation Analysis for Cystic Fibrosis

14 May 2009

Abstract excerpt

BACKGROUND: Molecular diagnosis for cystic fibrosis (CF) is based on the direct identification of mutations in the CFTR gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] (detection rate about 90% with scanning procedures) and on segregation analysis of intragenic polymorphisms for carrier and prenatal diagnosis in about 20% of CF families in which 1 or both...

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Identifiers

PMID: 19443567
DOI: 10.1373/clinchem.2008.119545

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