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
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Online Access:https://repository.li.mahidol.ac.th/handle/123456789/20706
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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
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