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rdf:type |
|
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lifeskim:mentions |
umls-concept:C0014239,
umls-concept:C0015127,
umls-concept:C0018042,
umls-concept:C0026882,
umls-concept:C0032191,
umls-concept:C0040015,
umls-concept:C0205314,
umls-concept:C0330390,
umls-concept:C0449258,
umls-concept:C0679622,
umls-concept:C1314792
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|
pubmed:issue |
1
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pubmed:dateCreated |
2008-12-29
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pubmed:abstractText |
Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder characterized by lack of platelet aggregation in response to most physiological agonists and caused by either a lack or dysfunction of the platelet integrin alphaIIbbeta3 (glycoprotein IIb/IIIa).
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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:issn |
1096-0961
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
44-50
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pubmed:meshHeading |
pubmed-meshheading:18976939-Animals,
pubmed-meshheading:18976939-Blood Platelets,
pubmed-meshheading:18976939-CHO Cells,
pubmed-meshheading:18976939-Cricetinae,
pubmed-meshheading:18976939-Cricetulus,
pubmed-meshheading:18976939-Endoplasmic Reticulum,
pubmed-meshheading:18976939-Exons,
pubmed-meshheading:18976939-Family,
pubmed-meshheading:18976939-Female,
pubmed-meshheading:18976939-Golgi Apparatus,
pubmed-meshheading:18976939-Heterozygote,
pubmed-meshheading:18976939-Homozygote,
pubmed-meshheading:18976939-Humans,
pubmed-meshheading:18976939-Male,
pubmed-meshheading:18976939-Mutation, Missense,
pubmed-meshheading:18976939-Platelet Glycoprotein GPIIb-IIIa Complex,
pubmed-meshheading:18976939-Platelet Membrane Glycoprotein IIb,
pubmed-meshheading:18976939-Protein Transport,
pubmed-meshheading:18976939-Thrombasthenia
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pubmed:articleTitle |
A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.
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pubmed:affiliation |
Shanghai Institute of Hematology, Ruijin Hospital, Medical College of Shanghai Jiao Tong University, Shanghai, People's Republic of China.
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pubmed:publicationType |
Journal Article
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