p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

Among the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, is a relatively frequent finding. To clarify its clinical significance, we collected data from 104 subjects heterozygous for the mutation p.Ser1235Arg from the...

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Autores principales: René, Céline, Paulet, Damien, Girodon, Emmanuelle, Costa, Catherine, Lalau, Guy, Leclerc, Julie, Cabet-Bey, Faïza, Bienvenu, Thierry, Blayau, Martine, Iron, Albert, Mittre, Hervé, Feldmann, Delphine, Guittard, Caroline, Claustres, Mireille, Georges, Marie des
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2011
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039504/
https://ncbi.nlm.nih.gov/pubmed/20717170
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.137
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