21248318

Source:http://linkedlifedata.com/resource/pubmed/id/21248318

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0272199, umls-concept:C0332307, umls-concept:C2603343
pubmed:issue	5
pubmed:dateCreated	2011-4-28
pubmed:abstractText	Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/UNC13D protein, human
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1468-6244
pubmed:author	pubmed-author:AricòMaurizioM, pubmed-author:BeutelKarinK, pubmed-author:BrugnoloFrancescaF, pubmed-author:CeticaValentinaV, pubmed-author:CiambottiBenedettaB, pubmed-author:GriffithsGillian MGM, pubmed-author:HenterJan-IngeJI, pubmed-author:JankaGrittaG, pubmed-author:MastrodicasaElenaE, pubmed-author:MeethsMarieM, pubmed-author:MorettaLorenzoL, pubmed-author:PendeDanielaD, pubmed-author:SantoroAlessandraA, pubmed-author:SieniElenaE, pubmed-author:zur StadtUdoU
pubmed:issnType	Electronic
pubmed:volume	48
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	343-52
pubmed:meshHeading	pubmed-meshheading:21248318-Adolescent, pubmed-meshheading:21248318-Age of Onset, pubmed-meshheading:21248318-Cell Degranulation, pubmed-meshheading:21248318-Child, pubmed-meshheading:21248318-Child, Preschool, pubmed-meshheading:21248318-Cytotoxicity, Immunologic, pubmed-meshheading:21248318-Female, pubmed-meshheading:21248318-Gene Order, pubmed-meshheading:21248318-Genetic Association Studies, pubmed-meshheading:21248318-Genotype, pubmed-meshheading:21248318-Humans, pubmed-meshheading:21248318-Infant, pubmed-meshheading:21248318-Infant, Newborn, pubmed-meshheading:21248318-Killer Cells, Natural, pubmed-meshheading:21248318-Lymphohistiocytosis, Hemophagocytic, pubmed-meshheading:21248318-Male, pubmed-meshheading:21248318-Membrane Proteins, pubmed-meshheading:21248318-Mutation, pubmed-meshheading:21248318-Phenotype
pubmed:year	2011
pubmed:articleTitle	Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
pubmed:affiliation	Department of Pediatric Hematology and Oncology, Azienda Ospedaliero-Universitaria Meyer, Florence, Italy.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't