16818291

Source:http://linkedlifedata.com/resource/pubmed/id/16818291

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0012634, umls-concept:C0015576, umls-concept:C0152035, umls-concept:C0205488, umls-concept:C0314603, umls-concept:C1880022
pubmed:issue	7
pubmed:dateCreated	2006-7-4
pubmed:abstractText	We describe a Chinese family with an MYH9-related disorder in which a novel mutation V1516L at exon 31 of the MYH9 gene was identified. To the best of our knowledge, this is the first reported Chinese family with MYH9 mutation and supports the pan-ethnic nature of the disorder.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0417435
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/MYH9 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Molecular Motor Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Myosin Heavy Chains
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	1592-8721
pubmed:author	pubmed-author:GohT KTK, pubmed-author:MaEdmond S KES, pubmed-author:ShekTony W HTW, pubmed-author:WongChris L PCL
pubmed:issnType	Electronic
pubmed:volume	91
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1002-3
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:16818291-China, pubmed-meshheading:16818291-Family Health, pubmed-meshheading:16818291-Humans, pubmed-meshheading:16818291-Molecular Motor Proteins, pubmed-meshheading:16818291-Mutation, Missense, pubmed-meshheading:16818291-Myosin Heavy Chains, pubmed-meshheading:16818291-Thrombocytopenia
pubmed:year	2006
pubmed:articleTitle	Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family.
pubmed:publicationType	Letter, Case Reports, Research Support, Non-U.S. Gov't