17287450

Source:http://linkedlifedata.com/resource/pubmed/id/17287450

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0231220, umls-concept:C0596611, umls-concept:C0758256, umls-concept:C0868928, umls-concept:C1414209, umls-concept:C1742737, umls-concept:C1880022
pubmed:issue	16
pubmed:dateCreated	2007-4-17
pubmed:abstractText	To describe two symptomatic dysferlin gene mutation carriers.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Creatine Kinase, http://linkedlifedata.com/resource/pubmed/chemical/DYSF protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Genetic Markers, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Muscle Proteins
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	1526-632X
pubmed:author	pubmed-author:De LunaNN, pubmed-author:Domínguez-PerlesRR, pubmed-author:GallanoPP, pubmed-author:GallardoEE, pubmed-author:IllaII, pubmed-author:MárquesDD, pubmed-author:PalmerJJ, pubmed-author:ParadasCC, pubmed-author:Rojas-GarcíaRR
pubmed:issnType	Electronic
pubmed:day	17
pubmed:volume	68
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1284-9
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:17287450-Adult, pubmed-meshheading:17287450-Creatine Kinase, pubmed-meshheading:17287450-DNA Mutational Analysis, pubmed-meshheading:17287450-Female, pubmed-meshheading:17287450-Genetic Markers, pubmed-meshheading:17287450-Genetic Predisposition to Disease, pubmed-meshheading:17287450-Genetic Testing, pubmed-meshheading:17287450-Heterozygote, pubmed-meshheading:17287450-Heterozygote Detection, pubmed-meshheading:17287450-Humans, pubmed-meshheading:17287450-Magnetic Resonance Imaging, pubmed-meshheading:17287450-Male, pubmed-meshheading:17287450-Membrane Proteins, pubmed-meshheading:17287450-Middle Aged, pubmed-meshheading:17287450-Muscle, Skeletal, pubmed-meshheading:17287450-Muscle Proteins, pubmed-meshheading:17287450-Muscle Weakness, pubmed-meshheading:17287450-Muscular Diseases, pubmed-meshheading:17287450-Mutation, pubmed-meshheading:17287450-Pedigree
pubmed:year	2007
pubmed:articleTitle	Symptomatic dysferlin gene mutation carriers: characterization of two cases.
pubmed:affiliation	Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autonoma, Barcelona, Spain. iilla@santpau.es
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't