(Q52071075)

English

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

scientific article published in March 1988

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

glycerol kinase deficiency

1 reference

based on heuristic

inferred from title

author name string

J Chelly

1

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

F Marlhens

2

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

B Dutrillaux

3

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

G J Van Ommen

4

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

M Lambert

5

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

B Haioun

6

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

G Boissinot

7

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

M Fardeau

8

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

J C Kaplan

9

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

publication date

1 March 1988

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

78

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

3

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

222-227

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

https://scigraph.springernature.com/pub.10.1007/bf00291665

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hyperglycerolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new technic of analysis of the human karyotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-range restriction map around the Duchenne muscular dystrophy gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker

1 reference

https://pubmed.ncbi.nlm.nih.gov/2894344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00291665

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/2894344

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