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

Autor: Hisham Gamalmaz, Tariq Alotaibi, Sami Alotaibi, Nabil Moghrabi, Hanaa Banjar

Publikováno v: International Journal of Pediatrics and Adolescent Medicine, Vol 4, Iss 1, Pp 41-46 (2017)
International Journal of Pediatrics & Adolescent Medicine

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866c1c48d96a9f204fca365f50726a84
https://doi.org/10.1016/j.ijpam.2016.09.001