(Q28183185)

restriction fragment length polymorphism

inferred from title

1 reference

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17 September 2022

author name string

H. Mitsubuchi

1

1 reference

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17 September 2022

I. Matsuda

2

1 reference

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17 September 2022

Y. Nobukuni

3

1 reference

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17 September 2022

R. Heidenreich

4

1 reference

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17 September 2022

Y. Indo

5

1 reference

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17 September 2022

F. Endo

6

1 reference

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17 September 2022

J. Mallee

7

1 reference

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17 September 2022

S. Segal

8

1 reference

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Journal of Inherited Metabolic Disease

17 September 2022

language of work or name

English

0 references

publication date

1992

0 references

published in

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volume

15

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issue

2

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page(s)

181-7

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cites work

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

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Regulation of mammalian pyruvate and branched-chain alpha-keto acid dehydrogenase complexes by phosphorylation-dephosphorylation

1 reference

12 December 2020

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

12 December 2020

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

12 December 2020

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

1 reference

12 December 2020

Newborn mass screening in Japan--1984

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex

1 reference

12 December 2020

Early diagnosis and treatment of inborn errors of metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation and characterization of a complementary DNA clone coding for the E1 beta subunit of the bovine branched-chain alpha-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing

1 reference

12 December 2020

Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase

1 reference

12 December 2020

Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase

1 reference

12 December 2020

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

1 reference

12 December 2020

Polymerase chain reaction amplification from dried blood spots on Guthrie cards

1 reference

12 December 2020

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity

1 reference

12 December 2020

Dimensions Publication ID

Identifiers

DOI

10.1007/BF01799628

0 references

1049995060

0 references