Cargando...

Assessing the Disease-Liability of Mutations in CFTR

Over 1900 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR), the gene defective in patients with cystic fibrosis. These mutations have been discovered primarily in individuals who have features consistent with the diagnosis of CF. In some cases, it has be...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Ferec, Claude, Cutting, Garry R.
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2012
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3543074/
https://ncbi.nlm.nih.gov/pubmed/23209179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a009480
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!