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Article

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.

Blood cells, molecules & diseases - 1 Jun 2013

Russo Roberta, Langella Concetta, Esposito Maria Rosaria, Gambale Antonella, Vitiello Francesco, Vallefuoco Fara, Ek Torben, Yang Elizabeth, Iolascon Achille

Abstract excerpt

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....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23453696
DOI: 10.1016/j.bcmd.2013.02.003
PMCID: PMC3651933

Genes

CDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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