损害S2P蛋白水解活性的两个新的MBTPS2错义突变导致具有新表型异常的IFAP综合征。

{"title":"损害S2P蛋白水解活性的两个新的MBTPS2错义突变导致具有新表型异常的IFAP综合征。","authors":"Natarin Caengprasath , Mathilde Nizon , Ratchathorn Panchaprateep , Benjamin Cogne , Silvestre Cuinat , Hélène Auburt , Nathalie Jonca , Thantrira Porntaveetus , Vorasuk Shotelersuk","doi":"10.1016/j.jdermsci.2023.10.004","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":94076,"journal":{"name":"Journal of dermatological science","volume":"112 3","pages":"Pages 166-169"},"PeriodicalIF":4.6000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies\",\"authors\":\"Natarin Caengprasath , Mathilde Nizon , Ratchathorn Panchaprateep , Benjamin Cogne , Silvestre Cuinat , Hélène Auburt , Nathalie Jonca , Thantrira Porntaveetus , Vorasuk Shotelersuk\",\"doi\":\"10.1016/j.jdermsci.2023.10.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":94076,\"journal\":{\"name\":\"Journal of dermatological science\",\"volume\":\"112 3\",\"pages\":\"Pages 166-169\"},\"PeriodicalIF\":4.6000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of dermatological science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0923181123002347\",\"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 dermatological science","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0923181123002347","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}