Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

Available commercial kits only screen for the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations causing classic cystic fibrosis and for the Tn variant in IVS8. However, full scanning of CFTR is needed for the diagnosis of patients with cystic fibrosis or CFTR-related d...

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Detalhes bibliográficos
Main Authors: Bareil, Corinne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Claustres, Mireille, des Georges, Marie
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2007
Assuntos:
Technical Advances
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2049054/
https://ncbi.nlm.nih.gov/pubmed/17975025
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2007.070040
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