Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation (Q35435002)

8 August 2017

title

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation (English)

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glycerol kinase deficiency

8 August 2017

main subject

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Sargent CA

1

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8 August 2017

Kidd A

2

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8 August 2017

Moore S

3

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8 August 2017

Dean J

4

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8 August 2017

Besley GT

5

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8 August 2017

Affara NA

6

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8 August 2017

language of work or name

English

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publication date

1 June 2000

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

37

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8 August 2017

issue

6

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8 August 2017

page(s)

434-441

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Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency

8 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734616

X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death

27 July 2018

1 reference

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The murine voltage-dependent anion channel gene family. Conserved structure and function

27 July 2018

1 reference

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Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene

27 July 2018

1 reference

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Isolation, characterization, and mapping of two mouse mitochondrial voltage-dependent anion channel isoforms

27 July 2018

1 reference

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Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue

27 July 2018

1 reference

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Structure of the regulatory complex of Escherichia coli IIIGlc with glycerol kinase

27 July 2018

1 reference

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Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel

27 July 2018

1 reference

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Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene

27 July 2018

1 reference

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Molecular cloning of rat liver glucocorticoid-receptor translocation promoter

27 July 2018

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Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

27 July 2018

1 reference

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The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons

27 July 2018

1 reference

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Porin interaction with hexokinase and glycerol kinase: Metabolic microcompartmentation at the outer mitochondrial membrane

27 July 2018

1 reference

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Familial hyperglycerolemia

27 July 2018

1 reference

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Glycerol kinase deficiency in two brothers with and without clinical manifestations.

27 July 2018

1 reference

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Mutations and phenotype in isolated glycerol kinase deficiency

26 September 2018

1 reference

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Isolation of the human Xp21 glycerol kinase gene by positional cloning

26 September 2018

1 reference

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Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms

26 September 2018

1 reference

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Fast and sensitive silver staining of DNA in polyacrylamide gels

26 September 2018

1 reference

12 December 2020

Nonsense mutations and diminished mRNA levels

1 reference

12 December 2020

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

1 reference

12 December 2020

Conserved active site aspartates and domain-domain interactions in regulatory properties of the sugar kinase superfamily

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.6.434

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8 August 2017

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8 August 2017

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