(Q34224680)

31 July 2017

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation (English)

1 reference

31 July 2017

1 reference

2

L. L. Hansen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1293379

10 September 2022

author name string

H. H. Dahl

1

1 reference

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10 September 2022

R. M. Brown

3

1 reference

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10 September 2022

D. M. Danks

4

1 reference

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10 September 2022

J. G. Rogers

5

1 reference

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10 September 2022

G. K. Brown

6

1 reference

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10 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1293379

10 September 2022

publication date

1 January 1992

1 reference

Journal of Inherited Metabolic Disease

31 July 2017

1 reference

31 July 2017

15

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31 July 2017

6

1 reference

31 July 2017

835-847

1 reference

https://scigraph.springernature.com/pub.10.1007/bf01800219

31 July 2017

0 references

cites work

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01800219

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

21 January 2018

1 reference

12 December 2020

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase

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

The genetic linkage map of the human X chromosome

1 reference

12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

12 December 2020

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

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

1 reference

12 December 2020

Neuropathology in cerebral lactic acidosis

1 reference

12 December 2020

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

1 reference

12 December 2020

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency

1 reference

12 December 2020

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

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

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha 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

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

12 December 2020

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency

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

Genetic defects in human pyruvate dehydrogenase

1 reference

12 December 2020

The CpG dinucleotide and human genetic disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01800219

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference