Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

BACKGROUND: The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene. Here we established the molecular basis of 42 cases of congenit...

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Autores principales: Iolascon, Achille, Russo, Roberta, Esposito, Maria Rosaria, Asci, Roberta, Piscopo, Carmelo, Perrotta, Silverio, Fénéant-Thibault, Madeleine, Garçon, Loïc, Delaunay, Jean
Formato: Artigo
Lenguaje:Inglês
Publicado: Ferrata Storti Foundation 2010
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2864375/
https://ncbi.nlm.nih.gov/pubmed/20015893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.014985
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