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Article

[Identification of a Novel Mutation of EPB41 Gene in a Family Affected with Hereditary Elliptocytosis].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition - 1 Jan 2020

Chen Jing, Zhou Wen-Jing, Li Yun-Xia, Chen Yu-Ning, Chen Hua-Gen, Ding Xian-Ping

Abstract excerpt

OBJECTIVE: To analyse potential genetic cause of a family affected with hereditary elliptocytosis （HE）. METHODS: Peripheral blood samples from this HE family were collected. Targeted capture and high-throughput sequencing of 4 813 genetic disease-associated genes was performed in four members of the family. Possible causative genetic variation was obtained and further confirmed by Sanger sequencing. Fifty healthy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 31950797
DOI: 10.12182/20200160505

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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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