Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
About this item
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Author / Creator
Geneviève, David , Proulle, Valérie , Isidor, Bertrand , Bellais, Samuel , Serre, Valérie , Djouadi, Fatima , Picard, Capucine , Vignon-Savoye, Capucine , Bader-Meunier, Brigitte , Blanche, Stéphane , de Vernejoul, Marie-Christine , Legeai-Mallet, Laurence , Fischer, Anne-Marie , Le Merrer, Martine , Dreyfus, Marie , Gaussem, Pascale , Munnich, Arnold and Cormier-Daire, Valérie
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in
TBXAS1
, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A
2
(TXA
2
). Platelets from subjects with GHDD showed a...
Alternative Titles
Full title
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
Authors, Artists and Contributors
Author / Creator
Proulle, Valérie
Isidor, Bertrand
Bellais, Samuel
Serre, Valérie
Djouadi, Fatima
Picard, Capucine
Vignon-Savoye, Capucine
Bader-Meunier, Brigitte
Blanche, Stéphane
de Vernejoul, Marie-Christine
Legeai-Mallet, Laurence
Fischer, Anne-Marie
Le Merrer, Martine
Dreyfus, Marie
Gaussem, Pascale
Munnich, Arnold
Cormier-Daire, Valérie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_759319561
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_759319561
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2007.66
