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[Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2023

Ge Yangyang, Li Juanjuan, Han Ye, Xie Hua, Shangguan Shaofang, Jiang Qian, Chen Xiaoli, Liu Rong

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics and spectrum of SPTB gene variants among 16 Chinese children with Hereditary spherocytosis (HS) and explore their genotype-phenotype correlation. METHODS: Sixteen children who were diagnosed with HS at the Affiliated Hospital of Capital Institute of Pediatrics from November 2018 to July 2022 were selected as the research subjects. Genetic testing was carried out...

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Identifiers

PMID: 36854399
DOI: 10.3760/cma.j.cn511374-20221019-00698

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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.

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