A carregar...
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...
Na minha lista:
| Publicado no: | Qatar Med J |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
HBKU Press
2021
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|