Article
[To screen for SQSTM1/p62 gene in Chinese patients with familial amyotrophic lateral sclerosis carrying superoxide dismutase 1 mutation].
Zhonghua nei ke za zhi - 1 Dec 2014
Yang Yi, Fan Dongsheng
Abstract excerpt
OBJECTIVE: To explore the clinical features and SQSTM1/p62 gene mutations in Chinese Han patients with familial amyotrophic lateral sclerosis linked superoxide dismutase 1 (SOD1) mutation (FALS-SOD1). METHODS: A total of 13 FALS-SOD1 probands and 100 healthy controls were studied, with DNA extracted from the peripheral blood. Sequencing was carried out at 8 exons, intron-exon boundaries and promoter region (2-kb...
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