Mapping of dystrophin brain promoter: A deletion of this region is compatible with normal intellect (Q52053681)

20 April 2018

title

Mapping of dystrophin brain promoter: A deletion of this region is compatible with normal intellect (English)

1 reference

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chromosomal deletion syndrome

2 December 2022

main subject

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822342

2 December 2022

promoter

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822342

2 December 2022

1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90118-C

2 December 2022

1

J. T. den Dunnen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822342

2 December 2022

author name string

den Dunnen JT

1

1 reference

20 April 2018

L. Casula

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822342

2 December 2022

A. Makover

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822342

2 December 2022

B. Bakker

4

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2 December 2022

D. Yaffe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1822342

2 December 2022

U. Nudel

6

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2 December 2022

G. J. van Ommen

7

1 reference

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2 December 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=1822342

2 December 2022

publication date

1 January 1991

1 reference

20 April 2018

full work available at URL

https://api.elsevier.com/content/article/PII:096089669190118C?httpAccept=text/xml

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https://api.crossref.org/works/10.1016/0960-8966(91)90118-C

https://api.elsevier.com/content/article/PII:096089669190118C?httpAccept=text/plain

2 December 2022

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https://api.crossref.org/works/10.1016/0960-8966(91)90118-C

2 December 2022

published in

Neuromuscular Disorders

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20 April 2018

volume

1

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20 April 2018

issue

5

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20 April 2018

page(s)

327-331

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20 April 2018

Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene

cites work

2

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Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain

2 December 2022

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Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.

2 December 2022

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Duchenne muscular dystrophy gene product is not identical in muscle and brain.

2 December 2022

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1 reference

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Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

2 December 2022

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Dystrophin gene transcribed from different promoters in neuronal and glial cells.

2 December 2022

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1 reference

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Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells

2 December 2022

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1 reference

https://api.crossref.org/works/10.1016/0960-8966(91)90118-C

Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure

2 December 2022

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

2 December 2022

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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

2 December 2022

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A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene

2 December 2022

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Separation of large DNA molecules by contour-clamped homogeneous electric fields

2 December 2022

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

2 December 2022

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1 reference

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A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution

2 December 2022

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1 reference

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Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

2 December 2022

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

2 December 2022

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Globin gene deletion in HPFH, δ°β° thalassaemia and Hb Lepore disease

2 December 2022

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Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

2 December 2022

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2 December 2022

Identifiers

1 reference

20 April 2018

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20 April 2018