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...

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Detalles Bibliográficos
Autores principales: AbdulWahab, Atqah, AlNaimi, Amal, Habra, Basel, Janahi, Ibrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: HBKU Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314207/
https://www.ncbi.nlm.nih.gov/pubmed/34377682
http://dx.doi.org/10.5339/qmj.2021.24

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314207/
https://www.ncbi.nlm.nih.gov/pubmed/34377682
http://dx.doi.org/10.5339/qmj.2021.24

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