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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Bibliografiske detaljer
Main Authors: Groman, Joshua D., Karczeski, Barbara, Sheridan, Molly, Robinson, Terry E., Fallin, M. Daniele, Cutting, Garry R.
Format: Artigo
Sprog:Inglês
Udgivet: 2005
Fag:
Article
Online adgang: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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