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[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2020

Liu Hongyan, Huang Jia, Jiang Yinghai, Guo Liangjie, Xiao Hai, Wang Hongdan

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a pedigree affected with hereditary spherocytosis. METHODS: Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2(c.5798+1G) and pCAS2(c.5798+1A) plasmids were constructed by homologous recombination and transfected...

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Identifiers

PMID: 31922588
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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