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

• Main Authors: Hanaa Banjar (Author), Wesam Alkassas (Author), Firas Ghomraoui (Author), Reem Ghomraoui (Author), Nabil Moghrabi (Author)
• Formato: Livro
• Publicado em: Global Journal of Rare Diseases - Peertechz Publications, 2020-08-18.
• Assuntos: Case Study
• Acesso em linha: Connect to this object online.

<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...