Ontology highlight
ABSTRACT:
SUBMITTER: Russo R
PROVIDER: S-EPMC3651933 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Russo Roberta R Langella Concetta C Esposito Maria Rosaria MR Gambale Antonella A Vitiello Francesco F Vallefuoco Fara F Ek Torben T Yang Elizabeth E Iolascon Achille A
Blood cells, molecules & diseases 20130301 1
Congenital dyserythropoietic anemia type II, a recessive disorder of erythroid differentiation, is due to mutations in SEC23B, a component of the core trafficking machinery COPII. In no case homozygosity or compound heterozygosity for nonsense mutation(s) was found. This study represents the first description of molecular mechanisms underlying SEC23B hypomorphic genotypes by the analysis of five novel mutations. Our findings suggest that reduction of SEC23B gene expression is not associated with ...[more]