Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature

• Главные авторы: Hanaa Banjar (Автор), Wesam Alkassas (Автор), Firas Ghomraoui (Автор), Reem Ghomraoui (Автор), Nabil Moghrabi (Автор)
• Формат: ‌
• Опубликовано: Global Journal of Rare Diseases - Peertechz Publications, 2020-08-18.
• Предметы: Case Study
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<p>Introduction: Double homozygous mutation with the presence of double mutations in each allele is a very rare phenomenon with only 2 reports that have described this phenomenon in the medical literature.</p><p>Objective: To find the prevalence of double homozygous in our Cf popul...