The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia

The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed.

Detalles Bibliográficos
Autores principales: Banjar, Hanaa, Moghrabi, Nabil, Alotaibi, Tariq, Alotaibi, Sami, Gamalmaz, Hisham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372446/
https://www.ncbi.nlm.nih.gov/pubmed/30805499
http://dx.doi.org/10.1016/j.ijpam.2016.09.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372446/
https://www.ncbi.nlm.nih.gov/pubmed/30805499
http://dx.doi.org/10.1016/j.ijpam.2016.09.001

Ejemplares similares