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[Analysis of clinical characteristics and genetic mutation in a 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 2018

Zhao Jiangang, Wang Zhi, Zhang Liyu, Sun Hongli, Yang Ying

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS). METHODS: Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene. RESULTS: Both patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body...

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Identifiers

PMID: 29652989
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.009

Genes

LYST

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