First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Qatar Med J
Prif Awduron: AbdulWahab, Atqah, AlNaimi, Amal, Habra, Basel, Janahi, Ibrahim
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: HBKU Press 2021
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8314207/
https://ncbi.nlm.nih.gov/pubmed/34377682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5339/qmj.2021.24
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