(Q46909111)

English

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.

scientific article published in March 2008

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

endoplasmic reticulum

1 reference

based on heuristic

inferred from title

myotonia congenita

1 reference

based on heuristic

inferred from title

author name string

Hinni Papponen

1

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

Marja Nissinen

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

Tuula Kaisto

3

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

Vilho V Myllylä

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

Raili Myllylä

5

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

Kalervo Metsikkö

6

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

publication date

1 March 2008

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

Muscle and Nerve

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

37

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

3

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

317-325

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

Zur Genetik der Myotonien

1 reference

https://api.crossref.org/works/10.1002%2FMUS.20922

21 January 2018

Properties of isolated adult rat muscle fibres maintained in tissue culture

1 reference

https://api.crossref.org/works/10.1002%2FMUS.20922

21 January 2018

Founder mutations and the high prevalence of myotonia congenita in northern Finland

1 reference

https://api.crossref.org/works/10.1002%2FMUS.20922

21 January 2018

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

1 reference

https://api.crossref.org/works/10.1002%2FMUS.20922

21 January 2018

Identifiers

10.1002/MUS.20922

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17990293

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