{"title":"外显子组测序发现 ABCA7 是印度东部家族性注意力缺失症病例的重要基因","authors":"Dipanwita Sadhukhan, Adreesh Mukherjee, Bidisha Bhattacharyya, Smriti Mishra, Tapas Kumar Banerjee, Gautam Das, Uma Sinharoy, Subhra Prakash Hui, Soma Gupta, Atanu Biswas, Arindam Biswas","doi":"10.1101/2024.08.30.24312765","DOIUrl":null,"url":null,"abstract":"<strong>Introduction</strong> AD is the most complex disorder leading to dementia worldwide. Despite the disease burden among Indians the mutation spectrum in our subcontinent is not well examined.","PeriodicalId":501375,"journal":{"name":"medRxiv - Genetic and Genomic Medicine","volume":"6 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Exome sequencing identifies ABCA7 as an important gene for familial AD cases from Eastern India\",\"authors\":\"Dipanwita Sadhukhan, Adreesh Mukherjee, Bidisha Bhattacharyya, Smriti Mishra, Tapas Kumar Banerjee, Gautam Das, Uma Sinharoy, Subhra Prakash Hui, Soma Gupta, Atanu Biswas, Arindam Biswas\",\"doi\":\"10.1101/2024.08.30.24312765\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<strong>Introduction</strong> AD is the most complex disorder leading to dementia worldwide. Despite the disease burden among Indians the mutation spectrum in our subcontinent is not well examined.\",\"PeriodicalId\":501375,\"journal\":{\"name\":\"medRxiv - Genetic and Genomic Medicine\",\"volume\":\"6 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-08-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"medRxiv - Genetic and Genomic Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1101/2024.08.30.24312765\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"medRxiv - Genetic and Genomic Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/2024.08.30.24312765","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Exome sequencing identifies ABCA7 as an important gene for familial AD cases from Eastern India
Introduction AD is the most complex disorder leading to dementia worldwide. Despite the disease burden among Indians the mutation spectrum in our subcontinent is not well examined.