(Q69355905)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

title

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy

30 September 2019

main subject

1 reference

glycerol kinase deficiency

inferred from title

1 reference

J A Towbin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

D R Wu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

J Chamberlain

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

P D Larsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

W K Seltzer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

E R McCabe

1 reference

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30 September 2019

publication date

1 September 1989

1 reference

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30 September 2019

1 reference

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30 September 2019

volume

1 reference

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30 September 2019

issue

1 reference

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30 September 2019

page(s)

122-126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2550352%20AND%20SRC:MED&resulttype=core&format=json

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

30 September 2019

cites work

1 reference

12 December 2020

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

1 reference

12 December 2020

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

1 reference

12 December 2020

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

12 December 2020

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

12 December 2020

Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene

1 reference

12 December 2020

Expression of the murine Duchenne muscular dystrophy gene in muscle and brain

1 reference

12 December 2020

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

1 reference

12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

12 December 2020

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

1 reference

12 December 2020

Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy

1 reference

12 December 2020

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

12 December 2020

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia

1 reference

12 December 2020

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

12 December 2020

Localisation of gene for Becker muscular dystrophy

1 reference

12 December 2020

Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy

1 reference

12 December 2020