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.

Detalles Bibliográficos
Autores principales: Banjar, Hanaa, Moghrabi, Nabil, Alotaibi, Tariq, Alotaibi, Sami, Gamalmaz, Hisham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2017
Materias:
Case Report
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
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author Banjar, Hanaa
Moghrabi, Nabil
Alotaibi, Tariq
Alotaibi, Sami
Gamalmaz, Hisham
author_facet Banjar, Hanaa
Moghrabi, Nabil
Alotaibi, Tariq
Alotaibi, Sami
Gamalmaz, Hisham
author_sort Banjar, Hanaa
collection PubMed
description 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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spelling pubmed-63724462019-02-25 The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia Banjar, Hanaa Moghrabi, Nabil Alotaibi, Tariq Alotaibi, Sami Gamalmaz, Hisham Int J Pediatr Adolesc Med Case Report 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. King Faisal Specialist Hospital and Research Centre 2017-03 2017-02-16 /pmc/articles/PMC6372446/ /pubmed/30805499 http://dx.doi.org/10.1016/j.ijpam.2016.09.001 Text en © 2016 Publishing services provided by Elsevier B.V. on behalf of King Faisal Specialist Hospital & Research Centre (General Organization), Saudi Arabia. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Banjar, Hanaa
Moghrabi, Nabil
Alotaibi, Tariq
Alotaibi, Sami
Gamalmaz, Hisham
The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
title The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
title_full The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
title_fullStr The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
title_full_unstemmed The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
title_short The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
title_sort first case report of double homozygous of 2 different mutations in the cftr gene in saudi arabia
topic Case Report
url 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
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