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Updated: Jan 19, 2026

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在15名遗传性 ichthyosis 患者的队列中,表型-基因型相关性

Yu-Jie Ma1, Jing Li2, Yang Liu3

  • 1College of Life Sciences and Technology, Shandong Second Medical University, Shandong, China.; Beijing Jiaen Hospital; Heen Life Medical Research Institute, Beijing, China.

Clinica chimica acta; international journal of clinical chemistry
|January 17, 2026
PubMed
概括

基因分析发现了FLG和ABCA12基因中的新变异,有助于对遗传性胆固醇症患者的诊断. 这扩大了已知的遗传景观,这对于家庭咨询和生殖计划至关重要.

关键词:
染色体微阵列分析 (CMA)飞行员航空公司 (FLG)遗传性 Ichthyosis 这种疾病是遗传性的.在STS中,STS是STS.整体外基因组测序 (WES) 测序

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