rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
10
|
pubmed:dateCreated |
2006-10-6
|
pubmed:abstractText |
Familial macrothrombocytopenias are a group of rare autosomal dominant platelet disorders including many syndromes in particular the May-Hegglin anomaly. They are characterized by thrombocytopenia with giant platelets and in some cases neutrophilic inclusions in peripheral blood granulocytes. Recently these different clinical entities have been demonstrated to be linked to mutations in the same gene, MYH9.
|
pubmed:language |
fre
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pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Oct
|
pubmed:issn |
0248-8663
|
pubmed:author |
pubmed-author:BardetVV,
pubmed-author:Berda-HaddadYY,
pubmed-author:BernitEE,
pubmed-author:CamoinLL,
pubmed-author:DifeoAA,
pubmed-author:EbboMM,
pubmed-author:FavierRR,
pubmed-author:HarleJ-RJR,
pubmed-author:HeudierPP,
pubmed-author:KaplanskiGG,
pubmed-author:MazodierKK,
pubmed-author:SchleinitzNN,
pubmed-author:VeitVV
|
pubmed:issnType |
Print
|
pubmed:volume |
27
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
783-6
|
pubmed:meshHeading |
pubmed-meshheading:16978745-Adenine,
pubmed-meshheading:16978745-Adolescent,
pubmed-meshheading:16978745-Exons,
pubmed-meshheading:16978745-Female,
pubmed-meshheading:16978745-Humans,
pubmed-meshheading:16978745-Molecular Motor Proteins,
pubmed-meshheading:16978745-Myosin Heavy Chains,
pubmed-meshheading:16978745-Point Mutation,
pubmed-meshheading:16978745-Syndrome,
pubmed-meshheading:16978745-Thrombocytopenia,
pubmed-meshheading:16978745-Thymine
|
pubmed:year |
2006
|
pubmed:articleTitle |
[The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene].
|
pubmed:affiliation |
Service de médecine interne, CHU la Conception, APHM, boulevard Baille, 13385 Marseille cedex 05, France. nicolas.schleinitz@ap-hm.fr
|
pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|