(Q43482288)

23 November 2017

Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene (English)

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23 November 2017

5

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23 November 2017

H H Dahl

1

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23 November 2017

W M Hutchison

series ordinal

2

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23 November 2017

Z Guo

series ordinal

3

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23 November 2017

S M Forrest

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4

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23 November 2017

1 May 1991

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23 November 2017

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23 November 2017

87

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23 November 2017

49-53

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23 November 2017

1

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https://scigraph.springernature.com/pub.10.1007/bf01213091

23 November 2017

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cites work

The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA

1 reference

12 December 2020

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

A strategy to reveal high-frequency RFLPs along the human X chromosome

1 reference

12 December 2020

The mammalian pyruvate dehydrogenase complex: structure and regulation

1 reference

12 December 2020

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

1 reference

12 December 2020

Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase

1 reference

12 December 2020

Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit

1 reference

12 December 2020

Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

1 reference

12 December 2020

Biochemical properties of mammalian 2-oxo acid dehydrogenase multienzyme complexes and clinical relevancy with chronic lactic acidosis

1 reference

12 December 2020

Estimation of genetic variation at the DNA level from restriction endonuclease data

1 reference

12 December 2020

Detection and localization of base changes in RNA using a chemical cleavage method

1 reference

12 December 2020

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

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12 December 2020

A novel repeated element with Z-DNA-forming potential is widely found in evolutionarily diverse eukaryotic genomes

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12 December 2020

Simple sequences are ubiquitous repetitive components of eukaryotic genomes.

1 reference

12 December 2020

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Non-Alu family interspersed repeats in human DNA and their transcriptional activity

1 reference

12 December 2020

Alpha-keto acid dehydrogenase complexes. XI. Comparative studies of regulatory properties of the pyruvate dehydrogenase complexes from kidney, heart, and liver mitochondria

1 reference

12 December 2020

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

1 reference

12 December 2020

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

1 reference

12 December 2020

Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes

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12 December 2020

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

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12 December 2020

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

1 reference

12 December 2020

Characterization of Genomic Poly(dT-dG) · Poly(dC-dA) Sequences: Structure, Organization, and Conformation

1 reference

12 December 2020

Detection of single base changes in nucleic acids

1 reference

12 December 2020

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

1 reference

12 December 2020

Locations and contexts of sequences that hybridize to poly(dG-dT).(dC-dA) in mammalian ribosomal DNAs and two X-linked genes

1 reference

12 December 2020

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

1 reference

12 December 2020

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene

1 reference

12 December 2020

An estimate of unique DNA sequence heterozygosity in the human genome

1 reference

12 December 2020

The ubiquitous potential Z-forming sequence of eucaryotes, (dT-dG)n . (dC-dA)n, is not detectable in the genomes of eubacteria, archaebacteria, or mitochondria

1 reference

12 December 2020

A small-scale five-hour procedure for isolating multiple samples of CsCl-purified DNA: application to isolations from mammalian, insect, higher plant, algal, yeast, and bacterial sources.

1 reference

12 December 2020

Potential Z-DNA forming sequences are highly dispersed in the human genome.

1 reference

12 December 2020

Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation

1 reference

12 December 2020

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

1 reference

12 December 2020

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

12 December 2020

Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

1 reference

12 December 2020

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01213091

1 reference

Dimensions Publication ID

23 November 2017

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