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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3258542/
https://ncbi.nlm.nih.gov/pubmed/21850656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.22096
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados