V232D mutation in patients with cystic fibrosis: Not so rare, not so mild

The frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing during newborn screening (NBS) for CF can identify less common mutations with low clinical expression in childhood and previously considered mild but not f...

Descripción completa

Detalles Bibliográficos
Autores principales: Fernández-Lorenzo, Ana E., Moreno-Álvarez, Ana, Colon-Mejeras, Cristóbal, Barros-Angueira, Francisco, Solar-Boga, Alfonso, Sirvent-Gómez, Josep, Couce, María L., Leis, Rosaura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076148/
https://www.ncbi.nlm.nih.gov/pubmed/29995784
http://dx.doi.org/10.1097/MD.0000000000011397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076148/
https://www.ncbi.nlm.nih.gov/pubmed/29995784
http://dx.doi.org/10.1097/MD.0000000000011397

Ejemplares similares