Article
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Journal of medical genetics - 1 Sept 2011
Tsangaris E, Klaassen R, Fernandez C V, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton J H, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand J P, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman C M, Dror Y
Abstract excerpt
INTRODUCTION: Inherited bone marrow failure syndromes (IBMFSs) often have substantial phenotypic overlap, thus genotyping is often critical for establishing a diagnosis. OBJECTIVES AND METHODS: To determine the genetic characteristics and mutation profiles of IBMFSs, a comprehensive population-based study that prospectively enrols all typical and atypical cases without bias is required. The Canadian Inherited...
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