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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1999-11-3
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pubmed:databankReference |
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pubmed:abstractText |
Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0028-3878
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pubmed:author |
pubmed-author:AbichtAA,
pubmed-author:BrunnerJJ,
pubmed-author:HerczegfalviAA,
pubmed-author:HorváthRR,
pubmed-author:JanssenGG,
pubmed-author:JostWW,
pubmed-author:KarcagiVV,
pubmed-author:LochmüllerHH,
pubmed-author:Müller-FelberWW,
pubmed-author:MortierWW,
pubmed-author:PongratzDD,
pubmed-author:RüdelRR,
pubmed-author:RamaekersVV,
pubmed-author:ScharfPP,
pubmed-author:SchlotterBB,
pubmed-author:SeidelUU,
pubmed-author:StuckyJJ
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pubmed:issnType |
Print
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pubmed:day |
22
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1564-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10534268-Adolescent,
pubmed-meshheading:10534268-Adult,
pubmed-meshheading:10534268-Child,
pubmed-meshheading:10534268-Child, Preschool,
pubmed-meshheading:10534268-Europe,
pubmed-meshheading:10534268-Female,
pubmed-meshheading:10534268-Genotype,
pubmed-meshheading:10534268-Gypsies,
pubmed-meshheading:10534268-Homozygote,
pubmed-meshheading:10534268-Humans,
pubmed-meshheading:10534268-Infant,
pubmed-meshheading:10534268-Male,
pubmed-meshheading:10534268-Molecular Sequence Data,
pubmed-meshheading:10534268-Mutation,
pubmed-meshheading:10534268-Myasthenic Syndromes, Congenital,
pubmed-meshheading:10534268-Pedigree,
pubmed-meshheading:10534268-Phenotype,
pubmed-meshheading:10534268-Protein Isoforms,
pubmed-meshheading:10534268-Receptors, Cholinergic
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pubmed:year |
1999
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pubmed:articleTitle |
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
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pubmed:affiliation |
Genzentrum und Friedrich-Baur Institut, LMU München, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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