1887
Volume 2021, Issue 2
  • ISSN: 0253-8253
  • EISSN: 2227-0426

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.

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2021-07-26
2021-09-16
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  • Article Type: Case Report
Keyword(s): cystic fibrosis , p. Phe508del mutation and Qatar
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