First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
Joint Authors
Janahi, Ibrahim
Abd al-Wahhab, Atqah
al-Nuaymi, Amal
Habrah, Basil
Source
Issue
Vol. 2021, Issue 2 (31 Aug. 2021), pp.1-5, 5 p.
Publisher
Publication Date
2021-08-31
Country of Publication
Qatar
No. of Pages
5
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
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.
American Psychological Association (APA)
Abd al-Wahhab, Atqah& al-Nuaymi, Amal& Habrah, Basil& Janahi, Ibrahim. 2021. First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis. Qatar Medical Journal،Vol. 2021, no. 2, pp.1-5.
https://search.emarefa.net/detail/BIM-1442014
Modern Language Association (MLA)
Abd al-Wahhab, Atqah…[et al.]. First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis. Qatar Medical Journal No. 2 (2021), pp.1-5.
https://search.emarefa.net/detail/BIM-1442014
American Medical Association (AMA)
Abd al-Wahhab, Atqah& al-Nuaymi, Amal& Habrah, Basil& Janahi, Ibrahim. First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis. Qatar Medical Journal. 2021. Vol. 2021, no. 2, pp.1-5.
https://search.emarefa.net/detail/BIM-1442014
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 4-5
Record ID
BIM-1442014
