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Article

[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 30 Nov 2020

Yu Changjiang, Li Ying, Adilijang Abuduresuli, Yan Jizhong, Guzalnur Arkin, Abudushalamu Abudula, Aimirela Yimamu, Fan Ruixin

Abstract excerpt

OBJECTIVE: To explore genetic mutation types and their correlation with clinical phenotypes in Uighur patients with aortic disease in Kashgar (Xinjiang Uighur Autonomous Region, China). METHODS: We examined 37 pathogenic genes in 19 Uighur families with aortic diseases including Marfan syndrome from Kashgar using next generation sequencing, and the results were confirmed by Sanger sequence in the first relatives....

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Identifiers

PMID: 33243733
DOI: 10.12122/j.issn.1673-4254.2020.11.11
PMCID: PMC7704366

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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