Hematologically important mutations: Glanzmann thrombasthenia.
about
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systemsBeta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival.Role of the beta-subunit arginine/lysine finger in integrin heterodimer formation and function.Glanzmann's thrombasthenia: an overview.Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to GolgiGene therapy for platelet disorders: studies with Glanzmann's thrombasthenia.Hantaviruses direct endothelial cell permeability by sensitizing cells to the vascular permeability factor VEGF, while angiopoietin 1 and sphingosine 1-phosphate inhibit hantavirus-directed permeability.Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case.The Role of the Endothelium in HPS Pathogenesis and Potential Therapeutic Approaches.Therapeutic expression of the platelet-specific integrin, alphaIIbbeta3, in a murine model for Glanzmann thrombasthenia.Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia.Anaesthetic Management with Thromboelastography in a Patient with Glanzmann Thrombasthenia.Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia.Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13.Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17.In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia
P2860
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P2860
Hematologically important mutations: Glanzmann thrombasthenia.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Hematologically important mutations: Glanzmann thrombasthenia.
@en
type
label
Hematologically important mutations: Glanzmann thrombasthenia.
@en
prefLabel
Hematologically important mutations: Glanzmann thrombasthenia.
@en
P356
P1476
Hematologically important mutations: Glanzmann thrombasthenia.
@en
P2093
P356
10.1006/BCMD.1997.0117
P577
1997-01-01T00:00:00Z