-
oa First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
-
View Affiliations Hide Affiliations
- Source: Qatar Medical Journal, Volume 2021, Issue 2, Sep 2021,
-
- 26 September 2020
- 07 March 2021
- 26 July 2021
Abstract
We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and distribution of this mutation in Arab countries.
© 2021 AbdulWahab, AlNaimi, Habra, Janahi, licensee HBKU Press.