A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.

J. Chinsky; M. Appel; S. Almashanu; P. Costeas; N. Ambulos; R. Carmi

doi:10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0

A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.

J. Chinsky
, M. Appel
, S. Almashanu
, P. Costeas
, N. Ambulos
, R. Carmi

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Mutation analysis of DNA from cultured amniocytes with absent branched-chain alpha-ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1a subunit of this multienzme complex (BCKDHA). This pregnancy occured in a large consanguinous pedigree with mutiple individuals with maple syrup urine disease (MSUD). PCR amplification of the region surrounding exon 7 allowed the identification of this mutation as well as two other previously identified mutations which cause MSUD.

Original language	English
Pages (from-to)	136
Number of pages	1
Journal	Human Mutation
Volume	12
Issue number	2
DOIs	https://doi.org/10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0
State	Published - 1 Jan 1998
Externally published	Yes

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0

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Chinsky, J., Appel, M., Almashanu, S., Costeas, P., Ambulos, N., & Carmi, R. (1998). A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online. Human Mutation, 12(2), 136. https://doi.org/10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0

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abstract = "Mutation analysis of DNA from cultured amniocytes with absent branched-chain alpha-ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1a subunit of this multienzme complex (BCKDHA). This pregnancy occured in a large consanguinous pedigree with mutiple individuals with maple syrup urine disease (MSUD). PCR amplification of the region surrounding exon 7 allowed the identification of this mutation as well as two other previously identified mutations which cause MSUD.",

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Chinsky, J, Appel, M, Almashanu, S, Costeas, P, Ambulos, N & Carmi, R 1998, 'A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.', Human Mutation, vol. 12, no. 2, pp. 136. https://doi.org/10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0

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A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.

Abstract

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