Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I

Autor:	Orly Dgany, Nili Avidan, Ali Shamseddine, Paresh Vyas, Laila Zahed, Anne-Marie O'Hea, Aref Chehal, Hannah Tamary, Nicola Bienz, William G. Wood, Jacqui S. Beckmann, Joud H. Haidar, Momin Ahmed, Sunitha N. Wickramasinghe, Ali T. Taher, Douglas R. Higgs
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Adult Male Ineffective erythropoiesis Genetic Linkage Anemia DNA Mutational Analysis Quantitative Trait Loci Immunology Mutation Missense Biology medicine.disease_cause Biochemistry Congenital dyserythropoietic anemia type I hemic and lymphatic diseases medicine Humans Aged Anemia Dyserythropoietic Congenital Glycoproteins Genetics Genetic heterogeneity Nuclear Proteins CDAN1 Gene Cell Biology Hematology Middle Aged medicine.disease Pedigree Mutational analysis Mutation testing Erythropoiesis Female
Popis:	The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of erythropoiesis characterized by anemia secondary to ineffective erythropoiesis and striking morphologic abnormalities of erythroblasts (reviewed in Wickramasinghe and Wood[1][1]). The autosomal
Databáze:	OpenAIRE
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