Vorthunju Nakhonsri, S. Kaewsutthi, B. Suktitipat, Wichit Suthammarak, W. Chuenkongkaew, Rujipat Wasitthankasem, S. Tongsima, P. Lertrit
{"title":"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","authors":"Vorthunju Nakhonsri, S. Kaewsutthi, B. Suktitipat, Wichit Suthammarak, W. Chuenkongkaew, Rujipat Wasitthankasem, S. Tongsima, P. Lertrit","doi":"10.56808/2586-940x.1079","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":15935,"journal":{"name":"Journal of Health Research","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"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\",\"authors\":\"Vorthunju Nakhonsri, S. Kaewsutthi, B. Suktitipat, Wichit Suthammarak, W. Chuenkongkaew, Rujipat Wasitthankasem, S. Tongsima, P. Lertrit\",\"doi\":\"10.56808/2586-940x.1079\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":15935,\"journal\":{\"name\":\"Journal of Health Research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Health Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.56808/2586-940x.1079\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEALTH CARE SCIENCES & SERVICES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Health Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.56808/2586-940x.1079","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEALTH CARE SCIENCES & SERVICES","Score":null,"Total":0}
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