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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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| 出版年: | Mol Genet Metab |
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| 第一著者: | |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン･アクセス: | 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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