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Article

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

Haematologica - 1 May 2010

Iolascon Achille, Russo Roberta, Esposito Maria Rosaria, Asci Roberta, Piscopo Carmelo, Perrotta Silverio, Fénéant-Thibault Madeleine, Garçon Loïc, Delaunay Jean

Abstract excerpt

BACKGROUND: The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene. Here we established the molecular basis of 42 cases of conge...

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Identifiers

PMID: 20015893
DOI: 10.3324/haematol.2009.014985
PMCID: PMC2864375

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20015893-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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