(Q47827034)

English

A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.

scientific article published in May 1998

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scholarly article

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency. (English)

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

congenital myasthenic syndrome

1 reference

based on heuristic

inferred from title

author name string

Croxen R

1

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

Beeson D

2

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

Newland C

3

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

Betty M

4

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

Vincent A

5

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

Newsom-Davis J

6

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

language of work or name

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publication date

1 May 1998

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

Annals of the New York Academy of Sciences

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

841

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

195-198

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

Genes at the junction--candidates for congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10927.X

21 January 2018

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10927.X

21 January 2018

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10927.X

21 January 2018

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10927.X

21 January 2018

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1998.TB10927.X

21 January 2018

Identifiers

10.1111/J.1749-6632.1998.TB10927.X

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

release_b7whzihsr5aqpkdqxpe4qzweum

1 reference

https://api.fatcat.wiki/v0/release/b7whzihsr5aqpkdqxpe4qzweum

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/9668239

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