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Article

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Clinical genetics - 1 Jul 2016

Park J, Jeong D-C, Yoo J, Jang W, Chae H, Kim J, Kwon A, Choi H, Lee J W, Chung N-G, Kim M, Kim Y

Abstract excerpt

The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed to investigate the mutational gene- or domain-specific laboratory and clinical association. Twenty-five HS patients carried one heterozygous mutation of...

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Source

Identifiers

PMID: 26830532
DOI: 10.1111/cge.12749

Genes

ANK1
SPTB
EPB42
SPTA1

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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