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Natural History, with Clinical, Biochemical and Molecular Characterization, of Classical Homocystinuria in the Qatari Population
(
Wiley
, 2019 , Article)
Classical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural ...
Analysis of the Qatari R336C Cystathionine β-Synthase Protein in Mice.
(
Wiley
, 2019 , Article)
Classical homocystinuria is a recessive inborn error of metabolism caused by mutations in the cystathionine beta-synthase (CBS) gene. The highest incidence of CBS deficiency in the world is found in the country of Qatar ...