First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
| Autor: | Basel Habra, Atqah AbdulWahab, Amal Al-Naimi, Ibrahim A. Janahi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities biology p. Phe508del mutation business.industry Case Report General Medicine Gene mutation medicine.disease Phenotype Cystic fibrosis Cystic fibrosis transmembrane conductance regulator cystic fibrosis Mutation (genetic algorithm) biology.protein medicine business Qatar |
| Zdroj: | Qatar Medical Journal |
| ISSN: | 2227-0426 0253-8253 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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