一例 ATP2A2 第 8 号外显子发生错义突变的达里尔病病例。

{"title":"一例 ATP2A2 第 8 号外显子发生错义突变的达里尔病病例。","authors":"Akiko Hasegawa, Kazuki M Matsuda, Masato Ogishi, Shunsuke Miura, Ayumi Yoshizaki, Matthieu Chaldebas, Baptiste Milisavljevic, Peng Zhang, Jean-Laurent Casanova, Shinichi Sato","doi":"10.1111/1346-8138.17477","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":94236,"journal":{"name":"The Journal of dermatology","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case of Darier's disease with a missense mutation in exon 8 of ATP2A2.\",\"authors\":\"Akiko Hasegawa, Kazuki M Matsuda, Masato Ogishi, Shunsuke Miura, Ayumi Yoshizaki, Matthieu Chaldebas, Baptiste Milisavljevic, Peng Zhang, Jean-Laurent Casanova, Shinichi Sato\",\"doi\":\"10.1111/1346-8138.17477\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":94236,\"journal\":{\"name\":\"The Journal of dermatology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Journal of dermatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1111/1346-8138.17477\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Journal of dermatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/1346-8138.17477","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}