19251977

Source:http://linkedlifedata.com/resource/pubmed/id/19251977

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0205082, umls-concept:C0376315, umls-concept:C0678227, umls-concept:C0751882, umls-concept:C1416781
pubmed:issue	3
pubmed:dateCreated	2009-3-2
pubmed:abstractText	We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2).
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-10648706, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-11054875, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-11172068, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-11369940, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-11742036, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-11791205, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-12563004, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-12766226, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-15367484, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-15367858, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-15496425, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-15577901, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-15907919, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-15979864, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-16452099, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-16826520, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-16912710, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-16917026, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-16921188, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-17855154, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-18161030, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-18219670, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-7885444, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-9641682, http://linkedlifedata.com/resource/pubmed/commentcorrection/19251977-9689136
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Laminin, http://linkedlifedata.com/resource/pubmed/chemical/laminin beta2
pubmed:status	MEDLINE
pubmed:month	Mar
pubmed:issn	1468-6244
pubmed:author	pubmed-author:Abdel-HamidHH, pubmed-author:AndersonJ AJA, pubmed-author:ArredondoJJ, pubmed-author:CagneyOO, pubmed-author:MaselliR ARA, pubmed-author:NgJ JJJ, pubmed-author:WesselH BHB, pubmed-author:WilliamsCC, pubmed-author:WollmannR LRL
pubmed:issnType	Electronic
pubmed:volume	46
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	203-8
pubmed:dateRevised	2010-9-23
pubmed:meshHeading	pubmed-meshheading:19251977-DNA Mutational Analysis, pubmed-meshheading:19251977-Eye Diseases, Hereditary, pubmed-meshheading:19251977-Female, pubmed-meshheading:19251977-Humans, pubmed-meshheading:19251977-Laminin, pubmed-meshheading:19251977-Mutation, pubmed-meshheading:19251977-Myasthenic Syndromes, Congenital, pubmed-meshheading:19251977-Neuromuscular Junction, pubmed-meshheading:19251977-Young Adult
pubmed:year	2009
pubmed:articleTitle	Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.
pubmed:affiliation	Department of Neurology, University of California Davis, Davis, CA, 95618, USA. ramaselli@ucdavis.edu
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't