Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site
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New horizons for congenital myasthenic syndromesCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentDeleterious 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 FamilyNicotinic 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
Q24632782-1AC5A218-EAB0-47A5-9F2A-C32247495B01Q28082722-C4D68F60-CA75-4A56-9215-DE499345DC3CQ36131243-8F0B35CF-6EC8-48FE-AEFD-8EEAFB5D28E5Q37445384-0C6917FC-D3DA-499E-9E4B-36E009622C7DQ38189979-45488E91-7FB6-4D37-A872-BF2AF601FE50Q38259083-FD464A76-EF8B-4984-8FEF-CABF0B8B4279Q49239684-DEDADB43-49F7-4A51-A3E5-BF7DB51D7FF3
P2860
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site
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
P2093
P2860
P3181
P1433
P1476
Highly fatal fast-channel synd ...... on at the agonist binding site
@en
P2093
Andrew G Engel
Joan M Brengman
Steve M Sine
Xin-Ming Shen
P2860
P304
P3181
P356
10.1212/WNL.0B013E31825B5BDA
P407
P577
2012-05-16T00:00:00Z