Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
about
Inherited platelet disorders: toward DNA-based diagnosisFriend or foe: high bone mineral density on routine bone density scanning, a review of causes and managementCongenital platelet disorders and understanding of platelet function.Update on the causes of platelet disorders and functional consequences.Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone massEffects of copy number variable regions on local gene expression in white blood cells of Mexican Americans.Advances in our understanding of the molecular basis of disorders of platelet function.Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.Downregulation of TBXAS1 in an iron-induced malignant mesothelioma model.Functional analysis of human thromboxane synthase polymorphic variants.Association analysis of thromboxane A synthase 1 gene polymorphisms with aspirin intolerance in asthmatic patients.Ghosal hematodiaphyseal dysplasia with myelofibrosis.Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.Bone involvement in monogenic autoinflammatory syndromes.Ghosal Hemato-diaphyseal Dysplasia: A Rare Variety of Hypoplastic Anemia with Good Response to Steroid Therapy.Defective TBXAS1 does not isomerise PGH2 to TXA2
P2860
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P2860
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
@ast
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
@en
Thromboxane synthase mutations in an increased bone density disorder
@nl
type
label
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
@ast
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
@en
Thromboxane synthase mutations in an increased bone density disorder
@nl
prefLabel
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
@ast
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
@en
Thromboxane synthase mutations in an increased bone density disorder
@nl
P2093
P2860
P50
P356
P1433
P1476
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
@en
P2093
Anne-Marie Fischer
Bertrand Isidor
Capucine Vignon-Savoye
David Geneviève
Marie Dreyfus
Marie-Christine de Vernejoul
Samuel Bellais
Stéphane Blanche
Valérie Serre
P2860
P2888
P304
P356
10.1038/NG.2007.66
P407
P50
P577
2008-02-10T00:00:00Z
P5875
P6179
1009855400