(Q73561569)

English

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation

scientific article published on 01 March 2000

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Severe mental retardation

1 reference

based on heuristic

inferred from title

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

T Wibawa

1

1 reference

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5 November 2019

Y Takeshima

2

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

I Mitsuyoshi

3

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H Wada

4

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5 November 2019

H Nakamura

6

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M Matsuo

7

1 reference

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5 November 2019

publication date

1 March 2000

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5 November 2019

Brain and Development

1 reference

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PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

22

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5 November 2019

2

1 reference

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PubMed publication ID

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5 November 2019

107-112

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

The structural and functional diversity of dystrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular organization at the glycoprotein-complex-binding site of dystrophin. Three dystrophin-associated proteins bind directly to the carboxy-terminal portion of dystrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Intracellular neuronal calcium sensor proteins: a family of EF-hand calcium-binding proteins in search of a function

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Look at a tyrosine kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion status and intellectual impairment in Duchenne muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Dystrophin is transcribed in brain from a distant upstream promoter.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Brain morphology in Duchenne muscular dystrophy: a Golgi study

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Mental deficiency associated with muscular dystrophy. A neuropathological study.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2899%2900126-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0387-7604(99)00126-6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10722962%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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