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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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Main Authors: des Georges, Marie, Guittard, Caroline, Templin, Carine, Altiéri, Jean-Pierre, de Carvalho, Candice, Ramsay, Michele, Claustres, Mireille
格式: Artigo
語言:Inglês
出版: American Society for Investigative Pathology 2008
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在線閱讀: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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