8680412

Source:http://linkedlifedata.com/resource/pubmed/id/8680412

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0268242, umls-concept:C0599122, umls-concept:C0678227
pubmed:issue	4
pubmed:dateCreated	1996-8-16
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/1 P30 HD27786, http://linkedlifedata.com/resource/pubmed/grant/1 R01 HD28607, http://linkedlifedata.com/resource/pubmed/grant/5 MO1 RR00071
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9215429
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Sphingomyelin Phosphodiesterase
pubmed:status	MEDLINE
pubmed:issn	1059-7794
pubmed:author	pubmed-author:SchuchmanE HEH
pubmed:issnType	Print
pubmed:volume	6
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	352-4
pubmed:dateRevised	2007-11-14
pubmed:meshHeading	pubmed-meshheading:8680412-Alleles, pubmed-meshheading:8680412-Humans, pubmed-meshheading:8680412-Infant, Newborn, pubmed-meshheading:8680412-Mutation, pubmed-meshheading:8680412-Niemann-Pick Diseases, pubmed-meshheading:8680412-Polymerase Chain Reaction, pubmed-meshheading:8680412-Sequence Analysis, DNA, pubmed-meshheading:8680412-Sphingomyelin Phosphodiesterase
pubmed:year	1995
pubmed:articleTitle	Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.
pubmed:affiliation	Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't