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

Internet

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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