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Cystathionine β-synthase Deficiency: Of Mice and Men

Cystathionine β-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterize...

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Bibliografski detalji
Izdano u:Mol Genet Metab
Glavni autor: Kruger, Warren D.
Format: Artigo
Jezik:Inglês
Izdano: 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5526210/
https://ncbi.nlm.nih.gov/pubmed/28583326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.05.011
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