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.

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Bibliographic Details
Published inInternational journal of pediatrics & adolescent medicine Vol. 4; no. 1; pp. 41 - 46
Main Authors Banjar, Hanaa, Moghrabi, Nabil, Alotaibi, Tariq, Alotaibi, Sami, Gamalmaz, Hisham
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.03.2017
King Faisal Specialist Hospital and Research Centre
Subjects
Case Report
Cystic fibrosis transregulatory gene (CFTR)
Mutations in the cystic fibrosis patients
Rare double homozygous in cystic fibrosis patients
Rare double homozygous in cystic fibrosis patients
Mutations in the cystic fibrosis patients
Cystic fibrosis transregulatory gene (CFTR)
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Summary: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.
ISSN:2352-6467
2352-6467
DOI:10.1016/j.ijpam.2016.09.001