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Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia

Glanzmann thrombasthenia (GT) is an inherited disorder of platelet aggregation resulting from quantitative and/or qualitative abnormalities of the glycoprotein IIb/IIIa complex. We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and...

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Detalhes bibliográficos
Principais autores: Zhengjing Lu, Lauriane Nikuze, Zhoulin Zhong, Fang Li, Fuyong Zhang, Kairong Liang, Manlv Wei, Hongying Wei
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis Group 2020-04-01
coleção:Platelets
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Acesso em linha:http://dx.doi.org/10.1080/09537104.2019.1615614
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