Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. Recent studies indicated that CDAII is caused
โฆ LIBER โฆ
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
โ Scribed by Russo, Roberta; Langella, Concetta; Esposito, Maria Rosaria; Gambale, Antonella; Vitiello, Francesco; Vallefuoco, Fara; Ek, Torben; Yang, Elizabeth; Iolascon, Achille
- Book ID
- 122143293
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 800 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1079-9796
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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 hav