12694237

Source:http://linkedlifedata.com/resource/pubmed/id/12694237

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0022130, umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0268243, umls-concept:C0599122, umls-concept:C1010944, umls-concept:C1420259
pubmed:issue	3
pubmed:dateCreated	2003-4-15
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0253664
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers, http://linkedlifedata.com/resource/pubmed/chemical/Sphingomyelin Phosphodiesterase
pubmed:status	MEDLINE
pubmed:month	Mar
pubmed:issn	0009-9163
pubmed:author	pubmed-author:CabreraJ CJC, pubmed-author:ChabásAA, pubmed-author:Fernández-BurrielMM, pubmed-author:MartiMM, pubmed-author:PeñaLL, pubmed-author:RamosJ CJC, pubmed-author:Rodríguez-QuiñonesFF
pubmed:issnType	Print
pubmed:volume	63
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	235-6
pubmed:dateRevised	2004-11-17
pubmed:meshHeading	pubmed-meshheading:12694237-Atlantic Islands, pubmed-meshheading:12694237-DNA Primers, pubmed-meshheading:12694237-Electrophoresis, Polyacrylamide Gel, pubmed-meshheading:12694237-Gene Deletion, pubmed-meshheading:12694237-Humans, pubmed-meshheading:12694237-Niemann-Pick Diseases, pubmed-meshheading:12694237-Pedigree, pubmed-meshheading:12694237-Sphingomyelin Phosphodiesterase
pubmed:year	2003
pubmed:articleTitle	The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.
pubmed:publicationType	Letter