(Q24678339)

English

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population

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scholarly article

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Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population (English)

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maple syrup urine disease

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based on heuristic

inferred from title

author name string

C R Fisher

1

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C W Fisher

2

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D T Chuang

3

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R P Cox

4

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language of work or name

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publication date

August 1991

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American Journal of Human Genetics

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49

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2

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429-34

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Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease

1 reference

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DNA sequencing with chain-terminating inhibitors

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

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Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase

1 reference

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Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells

1 reference

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The CpG dinucleotide and human genetic disease

1 reference

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Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex

1 reference

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The 2-oxo acid dehydrogenase complexes: recent advances

1 reference

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A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients

1 reference

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Molecular cloning of a cDNA for the E1 alpha subunit of rat liver branched chain alpha-ketoacid dehydrogenase

1 reference

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1 reference

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1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial protein import

1 reference

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based on heuristic

inferred from PubMed ID database lookup

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