(Q52079304)

English

Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

scientific article published in March 1986

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

nucleic acid sequence analysis

1 reference

based on heuristic

inferred from title

glycerol kinase deficiency

1 reference

based on heuristic

inferred from title

David B. Dunger

1

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

author name string

K E Davies

2

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

M Pembrey

3

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

B Lake

4

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

P Pearson

5

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

D Williams

6

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

A Whitfield

7

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

M J Dillon

8

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

language of work or name

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publication date

1 March 1986

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

1

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

8481

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

585-587

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial hyperglycerolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

An international system for human cytogenetic nomenclature (1978) ISCN (1978). Report of the Standing Commitee on Human Cytogenetic Nomenclature

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Human X chromosome markers and Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A study of possible heterogeneity in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2886%2992811-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0140-6736(86)92811-4

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2869305

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