(Q55055674)
Statements
Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD). (English)
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Yue-Ping Wang
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Man-Long Qi
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Ting-Ting Li
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Yun-Jing Zhao
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3 February 2012
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498
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1
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112-115
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