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Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
Peretz H, Rosenberg N, Landau M, Usher S, Nelson EJ, Mor-Cohen R, French DL, Mitchell BW, Nair SC, Chandy M, Coller BS, Srivastava A, Seligsohn U. Peretz H, et al. Among authors: chandy m. Hum Mutat. 2006 Apr;27(4):359-69. doi: 10.1002/humu.20304. Hum Mutat. 2006. PMID: 16463284
Prenatal diagnosis of Glanzmann thrombasthenia.
Srivastava A, Usher S, Nelson EJ, Jayandharan G, Shaji RV, Chandy M, Seligsohn U, Peretz H. Srivastava A, et al. Among authors: chandy m. Natl Med J India. 2003 Jul-Aug;16(4):207-8. Natl Med J India. 2003. PMID: 14606769
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 Golgi.
Nelson EJ, Li J, Mitchell WB, Chandy M, Srivastava A, Coller BS. Nelson EJ, et al. Among authors: chandy m. J Thromb Haemost. 2005 Dec;3(12):2773-83. doi: 10.1111/j.1538-7836.2005.01593.x. J Thromb Haemost. 2005. PMID: 16359515 Free PMC article.
404 results