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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin
Molecular Genetics and Metabolism, Volume 104, No. 4, Year 2011
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Description
Hereditary Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder resulting from a deficiency of fumarylacetoacetase caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene. We detected 11 novel and 6 previously described pathogenic mutations in a cohort of 43 patients originating from the Middle East with the acute form HT1. All of the mutations were homozygous and we did not find the presence of a "founder mutation". © 2011 Elsevier Inc.
Authors & Co-Authors
Imtiaz, Faiqa Ahmad
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Rashed, Mohamed S.
Egypt, Cairo
Pharmagene Specialized Analytical Services
al-Mubarak, Bashayer R.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Allam, Rabab
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
El Karaksy, H. M.
Egypt, Cairo
Faculty of Medicine
Al-Hassnan, Zuhair Nasser
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Owain, Mohammed Abdulaziz
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Zaidan, Hamad I.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Rahbeeni, Zuhair Abdalla
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Qari, Alya A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Meyer, Brian Francis
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Sayed, Moeen Aldeen A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 21
Authors: 12
Affiliations: 3
Identifiers
Doi:
10.1016/j.ymgme.2011.06.019
ISSN:
10967192
e-ISSN:
10967206
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study