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

<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...

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Bibliografiske detaljer
Main Authors:	Hanaa Banjar (Author), Wesam Alkassas (Author), Firas Ghomraoui (Author), Reem Ghomraoui (Author), Nabil Moghrabi (Author)
Format:	Bog
Udgivet:	Global Journal of Rare Diseases - Peertechz Publications, 2020-08-18.
Fag:	Case Study
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Lignende værker

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The Role of Extended <i>CFTR</i> Gene Sequencing in Newborn Screening for Cystic Fibrosis
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Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy
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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome
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Weight increase in people with cystic fibrosis on CFTR modulator therapy is mainly due to increase in fat mass
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