{"title":"KRT3和KRT12基因突变在Meesmann角膜营养不良综合征中的作用","authors":"S. Asadi","doi":"10.53902/sojnn.2022.02.000509","DOIUrl":null,"url":null,"abstract":"Meesmann corneal dystrophy syndrome is a genetic disorder of the eye that affects the cornea. This condition is characterized by the formation of small round cysts in all parts of the corneal layer, called the corneal epithelium. Meesmann corneal dystrophy syndrome is caused by a mutation in the KRT12 gene, which is located in the long arm of chromosome 17 as 17q21.2, or the KRT3 gene, which is located in the long arm of chromosome 12, as 12q13.13.","PeriodicalId":350784,"journal":{"name":"SOJ Neurology and Neuroscience","volume":"35 16","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Role of Mutations on Genes KRT3 & KRT12 in Meesmann Corneal Dystrophy Syndrome\",\"authors\":\"S. Asadi\",\"doi\":\"10.53902/sojnn.2022.02.000509\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Meesmann corneal dystrophy syndrome is a genetic disorder of the eye that affects the cornea. This condition is characterized by the formation of small round cysts in all parts of the corneal layer, called the corneal epithelium. Meesmann corneal dystrophy syndrome is caused by a mutation in the KRT12 gene, which is located in the long arm of chromosome 17 as 17q21.2, or the KRT3 gene, which is located in the long arm of chromosome 12, as 12q13.13.\",\"PeriodicalId\":350784,\"journal\":{\"name\":\"SOJ Neurology and Neuroscience\",\"volume\":\"35 16\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"SOJ Neurology and Neuroscience\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.53902/sojnn.2022.02.000509\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"SOJ Neurology and Neuroscience","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.53902/sojnn.2022.02.000509","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
The Role of Mutations on Genes KRT3 & KRT12 in Meesmann Corneal Dystrophy Syndrome
Meesmann corneal dystrophy syndrome is a genetic disorder of the eye that affects the cornea. This condition is characterized by the formation of small round cysts in all parts of the corneal layer, called the corneal epithelium. Meesmann corneal dystrophy syndrome is caused by a mutation in the KRT12 gene, which is located in the long arm of chromosome 17 as 17q21.2, or the KRT3 gene, which is located in the long arm of chromosome 12, as 12q13.13.
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