Exome Sequencing Reveals a Rare Autosomal Dominant Variant in MSTO1 Gene as a Novel Leber’s Hereditary Optic Neuropathy (LHON) Modifier in a Thai Family with High Penetrance of G11778A Mutation

IF 0.9 Q4 HEALTH CARE SCIENCES & SERVICES Journal of Health Research Pub Date : 2024-03-01 DOI:10.56808/2586-940x.1079
Vorthunju Nakhonsri, S. Kaewsutthi, B. Suktitipat, Wichit Suthammarak, W. Chuenkongkaew, Rujipat Wasitthankasem, S. Tongsima, P. Lertrit
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外显子组测序发现一个泰国家族的 MSTO1 基因中存在罕见的常染色体显性变异,该变异是一种新的勒伯遗传性视神经病变 (LHON) 变异体,且 G11778A 突变具有高渗透性
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来源期刊
Journal of Health Research
Journal of Health Research HEALTH CARE SCIENCES & SERVICES-
CiteScore
2.20
自引率
5.90%
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0
审稿时长
12 weeks
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