Article
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Clinical genetics - 1 Feb 2018
Arbiv O A, Cuvelier G, Klaassen R J, Fernandez C V, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton J H, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y
Abstract excerpt
Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included. Nucleotide-level mutations or large...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.