(Q73747530)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

R Suminaga

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M Matsuo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Y Takeshima

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

H Nakamura

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

H Wada

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 May 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

6 November 2019

published in

1 reference

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6 November 2019

volume

92

1 reference

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6 November 2019

issue

1

1 reference

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6 November 2019

page(s)

77-78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

Characterization of single-nucleotide polymorphisms in coding regions of human genes

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C77%3A%3AAID-AJMG13%3E3.0.CO%3B2-Q

alpha-actinin-2 is a new component of the dystrophin-glycoprotein complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C77%3A%3AAID-AJMG13%3E3.0.CO%3B2-Q

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C77%3A%3AAID-AJMG13%3E3.0.CO%3B2-Q

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C77%3A%3AAID-AJMG13%3E3.0.CO%3B2-Q

10.1002/(SICI)1096-8628(20000501)92:1<77::AID-AJMG13>3.0.CO;2-Q

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10797427%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference