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Cystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice

Missense mutations in the cystathionine β-synthase (CBS) gene are the most common cause of clinical homocystinuria in humans. The p.S466L mutation was identified in a homocystinuric patient, but enzymatic studies with recombinant protein show this mutant to be highly active. To understand how this m...

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Detalles Bibliográficos
Autores principales:	Gupta, Sapna, Wang, Liqun, Hua, Xiang, Krijt, Jakub, Kožich, Viktor, Kruger, Warren D.
Formato:	Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2630375/ https://www.ncbi.nlm.nih.gov/pubmed/18454451 http://dx.doi.org/10.1002/humu.20773

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