Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis

Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency,...

Descripción completa

Detalles Bibliográficos
Autores principales: Molinario, Rossana, Palumbo, Sara, Concolino, Paola, Rocchetti, Sandro, Rizza, Roberta, Scaglione, Giovanni Luca, Minucci, Angelo, Capoluongo, Ettore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397493/
https://www.ncbi.nlm.nih.gov/pubmed/25922769
http://dx.doi.org/10.1155/2015/289627

Ejemplares similares

Ejemplares similares