(Q24626090)

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

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title

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

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main subject

maple syrup urine disease

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B Zhang

1

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H J Edenberg

series ordinal

2

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D W Crabb

series ordinal

3

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R A Harris

series ordinal

4

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language of work or name

English

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publication date

April 1989

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published in

Journal of Clinical Investigation

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volume

83

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issue

4

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page(s)

1425-9

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cites work

Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney

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Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose

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7 April 2017

Purification and characterization of branched chain alpha-keto acid dehydrogenase complex of bovine kidney

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Measurement of protein using bicinchoninic acid

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7 April 2017

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

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Isolation of rabbit liver branched chain alpha-ketoacid dehydrogenase and regulation by phosphorylation

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

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Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

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27 September 2017

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease

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Phosphorylation sites and inactivation of branched-chain alpha-ketoacid dehydrogenase isolated from rat heart, bovine kidney, and rabbit liver, kidney, heart, brain, and skeletal muscle.

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30 May 2018

A mild procedure for the rapid release of cytoplasmic enzymes from cultured animal cells

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30 May 2018

Enzyme assays with mutant cell lines of maple syrup urine disease

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2703538

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivation of purified ox kidney branched-chain 2-oxoacid dehydrogenase complex by phosphorylation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2703538

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PubMed publication ID

2703538

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ResearchGate publication ID

20451772

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(Q24626090)

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

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