{"title":"另一个ALS家族,SOD1的p.Val120Leu (C . 358g > C)突变纯合子。","authors":"Faa Gondim, José Marcelino Aragão Fernandes","doi":"10.1080/21678421.2025.2457973","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"597-598"},"PeriodicalIF":2.8000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Another family with ALS and homozygosity for p.Val120Leu (c.358G > C) mutation of SOD1.\",\"authors\":\"Faa Gondim, José Marcelino Aragão Fernandes\",\"doi\":\"10.1080/21678421.2025.2457973\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":72184,\"journal\":{\"name\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"volume\":\" \",\"pages\":\"597-598\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/21678421.2025.2457973\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/31 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Amyotrophic lateral sclerosis & frontotemporal degeneration","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/21678421.2025.2457973","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/31 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
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