{"title":"RBM8A基因突变在桡骨血小板减少综合征中的作用","authors":"A. Shahin","doi":"10.23937/2378-3648/1410043","DOIUrl":null,"url":null,"abstract":"TAR syndrome is a genetic disorder characterized by a lack of radial bone in the forearm and a lack of blood platelets. Thrombocytopenia prevents normal blood clotting and causes bleeding easily and often bleeds from the nose. The TAR syndrome is caused by the mutation of the RBM8A gene, which is based on the long arm of chromosome 1, which is based on 1q21.1.","PeriodicalId":91313,"journal":{"name":"Journal of genetics and genome research","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"The Role of Genetic Mutations in Gene RBM8A in Thrombocytopenia-Absent Radius Syndrome\",\"authors\":\"A. Shahin\",\"doi\":\"10.23937/2378-3648/1410043\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"TAR syndrome is a genetic disorder characterized by a lack of radial bone in the forearm and a lack of blood platelets. Thrombocytopenia prevents normal blood clotting and causes bleeding easily and often bleeds from the nose. The TAR syndrome is caused by the mutation of the RBM8A gene, which is based on the long arm of chromosome 1, which is based on 1q21.1.\",\"PeriodicalId\":91313,\"journal\":{\"name\":\"Journal of genetics and genome research\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-03-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of genetics and genome research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.23937/2378-3648/1410043\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of genetics and genome research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.23937/2378-3648/1410043","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
The Role of Genetic Mutations in Gene RBM8A in Thrombocytopenia-Absent Radius Syndrome
TAR syndrome is a genetic disorder characterized by a lack of radial bone in the forearm and a lack of blood platelets. Thrombocytopenia prevents normal blood clotting and causes bleeding easily and often bleeds from the nose. The TAR syndrome is caused by the mutation of the RBM8A gene, which is based on the long arm of chromosome 1, which is based on 1q21.1.
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