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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2002-9-9
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pubmed:abstractText |
May-Hegglin anomaly (MHA) and Sebastian syndrome (SBS) are inherited macrothrombocytopenias with D hle-like bodies in leukocytes. MHA-SBS are due to mutations of the gene (MYH9) for the heavy chain of non-muscle myosin IIA (NMMHC-IIA), the only myosin II expressed in platelets. The bleeding tendency is often more severe than expected on the basis of platelet count, but no abnormality of platelet function has been identified. To characterize platelet abnormalities deriving from MYH9 mutations better, we studied surface glycoproteins (GPs) in platelets from MHA-SBS patients.
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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 |
Sep
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pubmed:issn |
0390-6078
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
87
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
943-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12217806-Blood Platelet Disorders,
pubmed-meshheading:12217806-Blood Platelets,
pubmed-meshheading:12217806-Female,
pubmed-meshheading:12217806-Flow Cytometry,
pubmed-meshheading:12217806-Genetic Predisposition to Disease,
pubmed-meshheading:12217806-Humans,
pubmed-meshheading:12217806-Leukocytes,
pubmed-meshheading:12217806-Male,
pubmed-meshheading:12217806-Molecular Motor Proteins,
pubmed-meshheading:12217806-Mutation,
pubmed-meshheading:12217806-Myosin Heavy Chains,
pubmed-meshheading:12217806-Nonmuscle Myosin Type IIA,
pubmed-meshheading:12217806-Platelet Glycoprotein GPIb-IX Complex,
pubmed-meshheading:12217806-Syndrome,
pubmed-meshheading:12217806-Thrombocytopenia
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pubmed:year |
2002
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pubmed:articleTitle |
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.
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pubmed:affiliation |
Department of Internal Medicine, IRCCS S. Matteo Universit di Pavia, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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