Article
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.
The Journal of pediatrics - 1 May 2005
Groman Joshua D, Karczeski Barbara, Sheridan Molly, Robinson Terry E, Fallin M Daniele, Cutting Garry R
Abstract excerpt
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: Clinical features were compared between 57 patients with deleterious mutations in each CFTR and 63 with no...
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