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Article

[Diagnose of a neonate with X-linked thrombocytopenia by next generation sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Gao Min, Kang Lili, Liu Yi, Gai Zhongtao

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a neonate with bloody stool and thrombocytopenia. METHODS: Clinical data of the neonate was collected. Peripheral venous blood samples were extracted from the neonate and his parents. Next generation sequencing through target capturing was carried out to detect potential mutations of genes associated with thrombocytopenia. Suspected mutation was validated by Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29896746
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.026

Provenance

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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