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PHENOTYPIC AND GENETIC CHARACTERIZATION OF PATIENTS WITH FEATURES OF “NONCLASSIC” FORMS OF CYSTIC FIBROSIS

OBJECTIVE: To determine which features of incomplete or “nonclassic” forms of cystic fibrosis (CF) are associated with deleterious CF transmembrane conductance regulator gene (CFTR) mutations, and to explore other etiologies for features not associated with deleterious CFTR mutations. STUDY DESIGN:...

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Detalhes bibliográficos
Main Authors: Groman, Joshua D., Karczeski, Barbara, Sheridan, Molly, Robinson, Terry E., Fallin, M. Daniele, Cutting, Garry R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2005
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3380804/
https://ncbi.nlm.nih.gov/pubmed/15870673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2004.12.020
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