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Inherited loss-of-function mutations of CBS result in classical homocystinuria (HCU), the most common inborn error of sulfur metabolism 8
[DOI] [PubMed] [Google Scholar] 124.Hantraye P, Brouillet E, Ferrante R, Palfi S, Dolan R, Matthews RT, Beal MF

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doi:10.1093/jpids/piy047 32
