Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

American journal of hematology - 1 Dec 2010

Russo Roberta, Esposito Maria Rosaria, Asci Roberta, Gambale Antonella, Perrotta Silverio, Ramenghi Ugo, Forni Gian Luca, Uygun Vedat, Delaunay Jean, Iolascon Achille

Abstract excerpt

SEC23B gene encodes an essential component of the coat protein complex II (COPII)-coated vesicles. Mutations in this gene cause the vast majority the congenital dyserythropoietic anemia Type II (CDA II), a rare disorder resulting from impaired erythropoiesis. Here, we investigated 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry. Overall, we found 19 novel variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Dyserythropoietic, Congenital
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family

Share to Gene Frequency

Share to Registries

Share to Sequence Alignment

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 20941788
DOI: 10.1002/ajh.21866
PMCID: PMC3015065

Genes

CDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.PMID 20941788Read ↗

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.Semantic proximity Read ↗

Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.Semantic proximity Read ↗

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.Semantic proximity Read ↗

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.Semantic proximity Read ↗

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.Semantic proximity Read ↗

[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II].Semantic proximity Read ↗

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

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).Semantic proximity Read ↗

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.Semantic proximity Read ↗

A case report of congenital dyserythropoietic anemia type II with a novel SEC23B mutation and accompanied by a large segmental deletion and literature reviewSemantic proximity Read ↗

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.