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Article

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017

Li Dongliang, Li Bolun, Qu Shanshan, Cao Wei, Yang Yaping, Ma Yintu, Hou Tianwen

Abstract excerpt

OBJECTIVE: To detect potential mutation in a family affected with congenital dyserythropoietic anemia type II (CDA II). METHODS: Targeted sequence capture and next-generation sequencing (NGS) were used to analyze the exons and exon-intron boundaries of the SEC23B gene in a clinically suspected CDA II patient. Genotypes of the relatives were validated by Sanger sequencing. Potential impact of amino acid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29188620
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.020

Genes

CDA
HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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