Browsing by Subject "p.R336C mutation"
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In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
( Wiley , 2018 , Article)Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ...