Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site - Wikidata - wikimedia - TriplyDB

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site

http://www.wikidata.org/entity/Q28266773

about

New horizons for congenital myasthenic syndromes Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family Nicotinic acetylcholine receptors in human genetic disease.Inherited disorders of the neuromuscular junction: an update.New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report.

P2860

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P2860

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site

http://www.wikidata.org/entity/Q28266773

description

2012 nî lūn-bûn

@nan

2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

Highly fatal fast-channel synd ...... on at the agonist binding site

@ast

Highly fatal fast-channel synd ...... on at the agonist binding site

@en

Highly fatal fast-channel synd ...... on at the agonist binding site

@nl

type

label

Highly fatal fast-channel synd ...... on at the agonist binding site

@ast

Highly fatal fast-channel synd ...... on at the agonist binding site

@en

Highly fatal fast-channel synd ...... on at the agonist binding site

@nl

prefLabel

Highly fatal fast-channel synd ...... on at the agonist binding site

@ast

Highly fatal fast-channel synd ...... on at the agonist binding site

@en

Highly fatal fast-channel synd ...... on at the agonist binding site

@nl

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P2860

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P1476

Highly fatal fast-channel synd ...... on at the agonist binding site

@en

P2093

Andrew G Engel

http://www.w3.org/2001/XMLSchema#string

Joan M Brengman

http://www.w3.org/2001/XMLSchema#string

Steve M Sine

http://www.w3.org/2001/XMLSchema#string

Xin-Ming Shen

http://www.w3.org/2001/XMLSchema#string

P2860

Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

On the nature of partial agonism in the nicotinic receptor superfamily.

Detection and trapping of intermediate states priming nicotinic receptor channel opening.

The nicotinic receptor ligand binding domain.

Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

Functional architecture of the nicotinic acetylcholine receptor: from electric organ to brain.

Aromatic Residues {epsilon}Trp-55 and {delta}Trp-57 and the Activation of Acetylcholine Receptor Channels.

Contributions of the non-alpha subunit residues (loop D) to agonist binding and channel gating in the muscle nicotinic acetylcholine receptor.

Lysine scanning mutagenesis delineates structural model of the nicotinic receptor ligand binding domain.

P304

449-454

http://www.w3.org/2001/XMLSchema#string

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scholarly article

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3552786

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P356

10.1212/WNL.0B013E31825B5BDA

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5

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79

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Simon Edvardson

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2012-05-16T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

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22592360

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P932

3405251

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