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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

BACKGROUND: To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as neutral variations. METHODS: The CFTR genes from individuals who carried at least one of these changes were extensively scanned by a w...

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Detalles Bibliográficos
Autores principales:	Claustres, Mireille, Altiéri, Jean-Pierre, Guittard, Caroline, Templin, Carine, Chevalier-Porst, Françoise, Georges, Marie Des
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2004
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC509248/ https://www.ncbi.nlm.nih.gov/pubmed/15287992 http://dx.doi.org/10.1186/1471-2350-5-19

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