WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient

By performing extensive scanning of whole coding and flanking sequences of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene, we had previously identified the CF-causing mutations in black South African patients of different ethnic groups suspected with the disease. Of ten sam...

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Detalhes bibliográficos
Main Authors: des Georges, Marie, Guittard, Caroline, Templin, Carine, Altiéri, Jean-Pierre, de Carvalho, Candice, Ramsay, Michele, Claustres, Mireille
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2008
Assuntos:
Consultations in Molecular Diagnostics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2570638/
https://ncbi.nlm.nih.gov/pubmed/18832460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2008.080028
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