Yüklüyor......

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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wiley Subscription Services, Inc., A Wiley Company 2011
Konular:
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!