Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience

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• 作者：Akella Radha Rama Devi^a ; ^b ; ^{radharamadevi@gmail.com} ; Shaik Mohammad Naushad^b
• 关键词：Methylmalonic aciduria ; Homocystinuria ; Early onset ; Gene mutations ; Outcome
• 刊名：Clinical Biochemistry
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：50
• 期：1-2
• 页码：68-72
• 全文大小：506 K
• 卷排序：50

文摘

First comprehensive analysis of methylmalonic aciduria from South India MUT mutations contribute to 40% of MMA cases. MMAB and MMAA contribute to 33% and 20%, respectively. MUT and MMAB mutants have early onset and high mortality. Three novel mutations: MUTp.Ala376Serfs, MMAB p.Glu112* and MMAA p.Tyr24*