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Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase
Classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase (GALT). Over 300 disease-associated GALT mutations have been reported, with the majority being missense changes, although a better understanding of their underlying molecular e...
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| 出版年: | Hum Mol Genet |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5081055/ https://ncbi.nlm.nih.gov/pubmed/27005423 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw091 |
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