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The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed.
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
King Faisal Specialist Hospital and Research Centre
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372446/ https://www.ncbi.nlm.nih.gov/pubmed/30805499 http://dx.doi.org/10.1016/j.ijpam.2016.09.001 |