Novel mutations in a Thai patient with methylmalonic acidemia

A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mut0) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and f...

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Bibliographic Details
Main Authors:	Voraratt Champattanachai, James R.Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti
Other Authors:	Chulabhorn Research Institute
Format:	Article
Published:	2018
Subjects:	Biochemistry, Genetics and Molecular Biology
Online Access:	https://repository.li.mahidol.ac.th/handle/123456789/20706
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Institution:	Mahidol University

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Novel mutations in a Thai patient with methylmalonic acidemia

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