21392394

Source:http://linkedlifedata.com/resource/pubmed/id/21392394

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0007758, umls-concept:C0026882, umls-concept:C0441748, umls-concept:C1314792, umls-concept:C1419149
pubmed:dateCreated	2011-3-28
pubmed:abstractText	To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-10655068, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-11478384, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-11706932, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-14630978, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-17055079, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-17075904, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-17303531, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-17342190, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-18712838, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-19421057, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-20079383, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-20647552, http://linkedlifedata.com/resource/pubmed/commentcorrection/21392394-20695019
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/101266602
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/peroxisome assembly factor-1
pubmed:status	MEDLINE
pubmed:issn	1750-1172
pubmed:author	pubmed-author:AubourgPatrickP, pubmed-author:FerdinandusseSachaS, pubmed-author:SevinCarolineC, pubmed-author:WandersRonald JRJ, pubmed-author:WaterhamHans RHR
pubmed:issnType	Electronic
pubmed:volume	6
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	8
pubmed:dateRevised	2011-7-27
pubmed:meshHeading	pubmed-meshheading:21392394-Adolescent, pubmed-meshheading:21392394-Cerebellar Ataxia, pubmed-meshheading:21392394-Child, Preschool, pubmed-meshheading:21392394-DNA, pubmed-meshheading:21392394-Frameshift Mutation, pubmed-meshheading:21392394-Genes, Recessive, pubmed-meshheading:21392394-Humans, pubmed-meshheading:21392394-Male, pubmed-meshheading:21392394-Membrane Proteins, pubmed-meshheading:21392394-Sequence Analysis, DNA
pubmed:year	2011
pubmed:articleTitle	Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
pubmed:affiliation	Pediatric Neurology and Endocrinology, Hôpital St Vincent de Paul, Paris, France. caroline.sevin@inserm.fr
pubmed:publicationType	Journal Article, Case Reports