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rdf:type |
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lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0017890,
umls-concept:C0020792,
umls-concept:C0036720,
umls-concept:C0086816,
umls-concept:C0162735,
umls-concept:C0205314,
umls-concept:C0679622,
umls-concept:C1280798,
umls-concept:C1556094,
umls-concept:C1709915
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pubmed:issue |
10
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pubmed:dateCreated |
2003-10-2
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pubmed:abstractText |
Interaction between platelet glycoprotein (GP)Ibalpha and von Willebrand factor (VWF) has critical roles in both physiological hemostasis and thrombosis. Platelet-type von Willebrand disease (plt-VWD) is a congenital bleeding disorder characterized by gain-of-function mutations of GPIbalpha. To date, two mutations in GPIbalpha, G233V and M239V, have been reported in four unrelated families with plt-VWD.
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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 |
Oct
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pubmed:issn |
1538-7933
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2198-205
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:14521605-Bleeding Time,
pubmed-meshheading:14521605-Blood Platelets,
pubmed-meshheading:14521605-Blood Proteins,
pubmed-meshheading:14521605-Cell Line,
pubmed-meshheading:14521605-Child, Preschool,
pubmed-meshheading:14521605-Dose-Response Relationship, Drug,
pubmed-meshheading:14521605-Family Health,
pubmed-meshheading:14521605-Genetic Vectors,
pubmed-meshheading:14521605-Genotype,
pubmed-meshheading:14521605-Glycine,
pubmed-meshheading:14521605-Glycoproteins,
pubmed-meshheading:14521605-Hemorrhage,
pubmed-meshheading:14521605-Heterozygote,
pubmed-meshheading:14521605-Humans,
pubmed-meshheading:14521605-Immunoglobulins,
pubmed-meshheading:14521605-Japan,
pubmed-meshheading:14521605-Male,
pubmed-meshheading:14521605-Mutation,
pubmed-meshheading:14521605-Phenotype,
pubmed-meshheading:14521605-Platelet Aggregation,
pubmed-meshheading:14521605-Point Mutation,
pubmed-meshheading:14521605-Protein Binding,
pubmed-meshheading:14521605-Protein Structure, Secondary,
pubmed-meshheading:14521605-Protein Structure, Tertiary,
pubmed-meshheading:14521605-Recombinant Proteins,
pubmed-meshheading:14521605-Ristocetin,
pubmed-meshheading:14521605-Serine,
pubmed-meshheading:14521605-Thrombocytopenia,
pubmed-meshheading:14521605-von Willebrand Diseases,
pubmed-meshheading:14521605-von Willebrand Factor
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pubmed:year |
2003
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pubmed:articleTitle |
Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.
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pubmed:affiliation |
Department of Medicine, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports
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