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A Rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Associated With Typical Cystic Fibrosis in an Arab Child

Cystic fibrosis (CF) is a progressive genetic disorder, inherited by the autosomal recessive mode of inheritance and more frequently seen in the Caucasian population with a carrier rate of 1:29 in Caucasian-Americans. Over 1800 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation...

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Detalles Bibliográficos
Autores principales: Mathew, Aji, Dirawi, Mohammed, Abou Tayoun, Ahmad, Popatia, Rizwana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994952/
https://www.ncbi.nlm.nih.gov/pubmed/33786233
http://dx.doi.org/10.7759/cureus.13526