Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child

Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is the most common inherited disorder in the Caucasian population, with around 2000 mutations identified for the CFTR gene. The precise prev...

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Detalles Bibliográficos
Autores principales: Francis, Nader, Yavuz, Sinan, Elnazir, Basil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896132/
https://www.ncbi.nlm.nih.gov/pubmed/36741604
http://dx.doi.org/10.7759/cureus.33337

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896132/
https://www.ncbi.nlm.nih.gov/pubmed/36741604
http://dx.doi.org/10.7759/cureus.33337

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