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[Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome].

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

Meng Jianhua, Wang Hongsheng, Qian Xiaowen, Miao Hui, Zhu Xiaohua, Yu Yi, Le Jun, Gao Shuai, Sun Chengjun, Qian Maoxiang, Zhai Xiaowen

Abstract excerpt

OBJECTIVE: To detect pathological variant in two patients with Chediak-Higashi syndrome (CHS) from a consanguineous family and to explore its genotype-phenotype correlation. METHODS: Clinical data was collected for this pedigree. Genomic DNA was prepared from probands' peripheral leukocytes and their relatives' fingernail. Whole exome sequencing and Sanger sequencing were carried out to detect potential variant...

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Identifiers

PMID: 32219832
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.019

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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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