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[Analysis of ALMS1 gene variants in seven patients with Alström syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Ding Yu, Zhang Qianwen, He Yingzhong, Zhang Lei, Li Niu, Chang Guoying, Chen Yao, Wang Jian, Wu Jinjin, Fu Lijun, Wang Xiumin

Abstract excerpt

OBJECTIVE: To explore the genetic basis for 7 patients with Alström syndrome. METHODS: DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense...

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PMID: 33565060
DOI: 10.3760/cma.j.cn511374-20200115-00033

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Source receipt: pubmed, retrieved 7 Sept 2026.

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