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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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Bibliografski detalji
Izdano u:BMC Med Genet
Glavni autori: Claustres, Mireille, Altiéri, Jean-Pierre, Guittard, Caroline, Templin, Carine, Chevalier-Porst, Françoise, Georges, Marie Des
Format: Artigo
Jezik:Inglês
Izdano: BMC 2004
Teme:
Online pristup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC509248/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15287992/
https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2350-5-19
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