The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respi...

Descripción completa

Detalles Bibliográficos
Autores principales: Cole, Kate H., Sosnay, Patrick R., Yarmus, Lonny B., Zuckerman, Jonathan B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238362/
https://www.ncbi.nlm.nih.gov/pubmed/22194755
http://dx.doi.org/10.1155/2011/903910

Ejemplares similares

Ejemplares similares