Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Congenital Dyserythropoietic Anemia type II is an autosomal recessive disorder characterized by unique abnormalities in the differentiation of cells of the erythroid lineage. The vast majority of CDA II cases result from mutations in the SEC23B gene. To date, 53 different causative mutations have be...

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Detalles Bibliográficos
Autores principales: Russo, Roberta, Gambale, Antonella, Esposito, Maria Rosaria, Serra, Maria Luisa, Troiano, Annaelena, De Maggio, Ilaria, Capasso, Mario, Luzzatto, Lucio, Delaunay, Jean, Tamary, Hannah, Iolascon, Achille
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3258542/
https://www.ncbi.nlm.nih.gov/pubmed/21850656
http://dx.doi.org/10.1002/ajh.22096

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