对一例 LMNA p.Arg582Leu 变异携带者轻度家族性部分脂肪营养不良病例的鉴定和特征描述。

{"title":"对一例 LMNA p.Arg582Leu 变异携带者轻度家族性部分脂肪营养不良病例的鉴定和特征描述。","authors":"Anna Maria Barile, Cristiana Randazzo, Francesca Di Gaudio, Carola Buscemi, Giuseppina Brunacci, Silvio Buscemi","doi":"10.1007/s00592-024-02396-w","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":6921,"journal":{"name":"Acta Diabetologica","volume":" ","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant.\",\"authors\":\"Anna Maria Barile, Cristiana Randazzo, Francesca Di Gaudio, Carola Buscemi, Giuseppina Brunacci, Silvio Buscemi\",\"doi\":\"10.1007/s00592-024-02396-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":6921,\"journal\":{\"name\":\"Acta Diabetologica\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2024-10-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Diabetologica\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00592-024-02396-w\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Diabetologica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00592-024-02396-w","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}