19620612

Source:http://linkedlifedata.com/resource/pubmed/id/19620612

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0030705, umls-concept:C0205210, umls-concept:C0243067, umls-concept:C0549225, umls-concept:C0678226, umls-concept:C1521991, umls-concept:C2607943, umls-concept:C2926606
pubmed:issue	3
pubmed:dateCreated	2009-7-21
pubmed:abstractText	Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/6277, http://linkedlifedata.com/resource/pubmed/grant/K08 NS50106, http://linkedlifedata.com/resource/pubmed/grant/NS6277
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pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Cholinergic Agonists, http://linkedlifedata.com/resource/pubmed/chemical/Muscle Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Cholinergic, http://linkedlifedata.com/resource/pubmed/chemical/peripheral membrane protein 43K
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	1526-632X
pubmed:author	pubmed-author:BrengmanJJ, pubmed-author:EngelA GAG, pubmed-author:HarperC MCM, pubmed-author:IannacconeS TST, pubmed-author:MiloneMM, pubmed-author:OhnoKK, pubmed-author:SelcenDD, pubmed-author:ShenX MXM
pubmed:issnType	Electronic
pubmed:day	21
pubmed:volume	73
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	228-35
pubmed:dateRevised	2010-9-27
pubmed:meshHeading	pubmed-meshheading:19620612-Adolescent, pubmed-meshheading:19620612-Adult, pubmed-meshheading:19620612-Age of Onset, pubmed-meshheading:19620612-Child, pubmed-meshheading:19620612-Child, Preschool, pubmed-meshheading:19620612-Cholinergic Agonists, pubmed-meshheading:19620612-DNA Mutational Analysis, pubmed-meshheading:19620612-Disease Progression, pubmed-meshheading:19620612-Female, pubmed-meshheading:19620612-Genetic Predisposition to Disease, pubmed-meshheading:19620612-Genetic Testing, pubmed-meshheading:19620612-Genotype, pubmed-meshheading:19620612-Homozygote, pubmed-meshheading:19620612-Humans, pubmed-meshheading:19620612-Male, pubmed-meshheading:19620612-Muscle Proteins, pubmed-meshheading:19620612-Mutation, pubmed-meshheading:19620612-Myasthenic Syndromes, Congenital, pubmed-meshheading:19620612-Neuromuscular Junction Diseases, pubmed-meshheading:19620612-Phenotype, pubmed-meshheading:19620612-Receptors, Cholinergic, pubmed-meshheading:19620612-Young Adult
pubmed:year	2009

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