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Article

[Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2016

Jiang Min, Lu Jie, Zhong Yan, Wang Yajuan, Yang Caiyun

Abstract excerpt

OBJECTIVE: To determine the disease-causing mutation in a newborn with hereditary spherocytosis. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing. RESULTS: An insertional mutation g.834_833insC was...

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Source

Identifiers

PMID: 26829732
DOI: 10.3760/cma.j.issn.1003-9406.2016.01.011

Genes

ANK1

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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