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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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

id	th-mahidol.20706
record_format	dspace
spelling	th-mahidol.207062018-07-24T10:19:20Z Novel mutations in a Thai patient with methylmalonic acidemia Voraratt Champattanachai James R.Ketudat Cairns Vorasuk Shotelersuk Siriporn Keeratichamroen Phannee Sawangareetrakul Chantragan Srisomsap Verachai Kaewpaluek Jisnuson Svasti Chulabhorn Research Institute Suranaree University of Technology Chulalongkorn University Mahidol University Biochemistry, Genetics and Molecular Biology 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 father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM. © 2003 Elsevier Science (USA). All rights reserved. 2018-07-24T03:19:20Z 2018-07-24T03:19:20Z 2003-08-01 Article Molecular Genetics and Metabolism. Vol.79, No.4 (2003), 300-302 10.1016/S1096-7192(03)00106-9 10967192 2-s2.0-0042890422 https://repository.li.mahidol.ac.th/handle/123456789/20706 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0042890422&origin=inward
institution	Mahidol University
building	Mahidol University Library
continent	Asia
country	Thailand Thailand
content_provider	Mahidol University Library
collection	Mahidol University Institutional Repository
topic	Biochemistry, Genetics and Molecular Biology
spellingShingle	Biochemistry, Genetics and Molecular Biology Voraratt Champattanachai James R.Ketudat Cairns Vorasuk Shotelersuk Siriporn Keeratichamroen Phannee Sawangareetrakul Chantragan Srisomsap Verachai Kaewpaluek Jisnuson Svasti Novel mutations in a Thai patient with methylmalonic acidemia
description	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 father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM. © 2003 Elsevier Science (USA). All rights reserved.
author2	Chulabhorn Research Institute
author_facet	Chulabhorn Research Institute Voraratt Champattanachai James R.Ketudat Cairns Vorasuk Shotelersuk Siriporn Keeratichamroen Phannee Sawangareetrakul Chantragan Srisomsap Verachai Kaewpaluek Jisnuson Svasti
format	Article
author	Voraratt Champattanachai James R.Ketudat Cairns Vorasuk Shotelersuk Siriporn Keeratichamroen Phannee Sawangareetrakul Chantragan Srisomsap Verachai Kaewpaluek Jisnuson Svasti
author_sort	Voraratt Champattanachai
title	Novel mutations in a Thai patient with methylmalonic acidemia
title_short	Novel mutations in a Thai patient with methylmalonic acidemia
title_full	Novel mutations in a Thai patient with methylmalonic acidemia
title_fullStr	Novel mutations in a Thai patient with methylmalonic acidemia
title_full_unstemmed	Novel mutations in a Thai patient with methylmalonic acidemia
title_sort	novel mutations in a thai patient with methylmalonic acidemia
publishDate	2018
url	https://repository.li.mahidol.ac.th/handle/123456789/20706
_version_	1763495840410763264

Novel mutations in a Thai patient with methylmalonic acidemia

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