Novel R225C variant identified in the HGD gene in Jordanian patients with alkaptonuria

Novel R225C variant identified in the HGD gene in Jordanian patients with alkaptonuria

Alkaptonuria (AKU) is a rare metabolic disease which is inherited as an autosomal recessive trait. It is characterized by the accumulation of homogentisic acid over time in various tissues of the body particularly connective tissues. This genetic disease is caused by mutation of the <i>Homogen...

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Bibliographic Details
Main Authors: Nesrin R. Mwafi, Dema A. Ali, Raida W. Khalil, Ibrahim N. Alsbou', Ahmad M. Saraireh
Format: Article
Language:English
Published: AIMS Press 2021-02-01
Series:AIMS Molecular Science
Subjects:
alkaptonuria
autosomal recessive
compound heterozygous
homogentisate 1
2-dioxygenase gene
missense mutation
Online Access:http://www.aimspress.com/article/doi/10.3934/molsci.2021005?viewType=HTML

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http://www.aimspress.com/article/doi/10.3934/molsci.2021005?viewType=HTML

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