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[Clinical and genetic study of a Chinese family affected with caveolinopathies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Nie Hongbing, Wu Xiangbin, Lyu Jinju, Zhu Jing, Tan Dandan

Abstract excerpt

OBJECTIVE: To analyze clinical features and genetic mutations in a Chinese family affected with autosomal dominant caveolinopathies. METHODS: Clinical data of the proband and her family members were collected. Genomic DNA was extracted from peripheral blood samples with a standard procedure. Next generation sequencing was carried out for the proband, and direct sequencing was employed to detect potential mutation...

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Identifiers

PMID: 28981925
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.006

Genes

CAV3

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