(Q28145619)

English

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

scientific article (publication date: October 1999)

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scholarly article

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Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome (English)

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congenital disorder

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1 reference

based on heuristic

inferred from title

congenital myasthenic syndrome

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based on heuristic

inferred from title

author name string

R Croxen

1

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C Newland

2

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M Betty

3

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A Vincent

4

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J Newsom-Davis

5

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D Beeson

6

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language of work or name

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publication date

October 1999

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Annals of Neurology

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46

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4

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639-47

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Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

The investigation of congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Genes at the junction--candidates for congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Synaptic structure and development: the neuromuscular junction

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

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

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

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/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Stable functional expression of the adult subtype of human muscle acetylcholine receptor following transfection of the human rhabdomyosarcoma cell line TE671 with cDNA encoding the epsilon subunit.

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Functional and non-functional isoforms of the human muscle acetylcholine receptor.

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

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21 January 2018

Expression of subunit-omitted mouse nicotinic acetylcholine receptors in Xenopus laevis oocytes.

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Localization of an Acetylcholine Receptor Intron to the Nuclear Membrane

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Nucleocytoplasmic transport

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Two isoforms of the muscle acetylcholine receptor alpha-subunit are translated in the human cell line TE671.

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Acetylcholine receptor expression in human extraocular muscles and their susceptibility to myasthenia gravis

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Clinical and experimental observations in patients with congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199910%2946%3A4%3C639%3A%3AAID-ANA13%3E3.0.CO%3B2-1

21 January 2018

Identifiers

10.1002/1531-8249(199910)46:4<639::AID-ANA13>3.0.CO;2-1

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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