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Article

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Orphanet journal of rare diseases - 30 Dec 2011

Punzo Francesca, Bertoli-Avella Aida M, Scianguetta Saverio, Della Ragione Fulvio, Casale Maddalena, Ronzoni Luisa, Cappellini Maria D, Forni Gianluca, Oostra Ben A, Perrotta Silverio

Abstract excerpt

BACKGROUND: Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are available only in specialized laboratories. The recent identification of SEC23B mutations as the cause of CDAII opens new possibilities for the molecular diagnosis of the disease. The aim of this study...

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Source

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Identifiers

PMID: 22208203
DOI: 10.1186/1750-1172-6-89
PMCID: PMC3269369

Genes

CDA

Variants

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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Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.PMID 22208203Read ↗

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