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

Publication date: Available online 16 February 2017 Source:International Journal of Pediatrics and Adolescent Medicine Author(s): Hanaa Banjar, Nabil Moghrabi, Tariq Alotaibi, Sami Alotaibi, Hisham Gamalmaz The first cases of a rare double homozygosity of 2 different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a CF patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed.
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research