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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2008-5-2
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pubmed:abstractText |
Hereditary thrombocythemia is an autosomal dominant disorder with clinical features resembling sporadic essential thrombocythemia. Germline mutations in families with hereditary thrombocythemia have been identified in the gene for thrombopoietin (TPHO) and its receptor, MPL.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1592-8721
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pubmed:author |
pubmed-author:BuserAndreas SAS,
pubmed-author:FrankPatriciaP,
pubmed-author:GisslingerHeinzH,
pubmed-author:GrabowskaBarbaraB,
pubmed-author:GreenNickyN,
pubmed-author:KooM JMJ,
pubmed-author:KralovicsRobertR,
pubmed-author:OkoñKrzysztofK,
pubmed-author:OlcayduDamlaD,
pubmed-author:RudzkiZbigniewZ,
pubmed-author:SkodaRadek CRC,
pubmed-author:van der MaasAnthonie P CAP
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pubmed:issnType |
Electronic
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
706-14
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pubmed:meshHeading |
pubmed-meshheading:18367486-Adolescent,
pubmed-meshheading:18367486-Adult,
pubmed-meshheading:18367486-Aged,
pubmed-meshheading:18367486-Aged, 80 and over,
pubmed-meshheading:18367486-Alternative Splicing,
pubmed-meshheading:18367486-Family Health,
pubmed-meshheading:18367486-Female,
pubmed-meshheading:18367486-Germ-Line Mutation,
pubmed-meshheading:18367486-Humans,
pubmed-meshheading:18367486-Male,
pubmed-meshheading:18367486-Middle Aged,
pubmed-meshheading:18367486-Poland,
pubmed-meshheading:18367486-Polymorphism, Single Nucleotide,
pubmed-meshheading:18367486-Thrombocytosis,
pubmed-meshheading:18367486-Thrombopoietin
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pubmed:year |
2008
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pubmed:articleTitle |
A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.
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pubmed:affiliation |
Department of Biomedicine, Experimental Hematology, University Hospital Basel, Hebelstrasse 20, 4031 Basel, Switzerland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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