心肌病患者的RBM20基因：功能丧失与热点变异的表型表达

{"title":"心肌病患者的RBM20基因：功能丧失与热点变异的表型表达","authors":"Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Louis Vogel, Loïc Garçon, Philippe Maury, Floriane Fay, Christophe Beyls, Anne-Claire Bréhin, Laure Champ-Rigot, Claire Dauphin, Benjamin Dauriat, Pascal De Groote, Erwan Donal, Delphine Dupin-Deguine, Laurence Faivre, Alexandre Janin, Antoine Jobbe Duval, Guillaume Jondeau, Mikael Laredo, Isabelle Magnin, Eloi Marijon, Karine Nguyen, Aurélien Palmyre, Alexandre Perani, François Picard, Patricia Reant, Pascale Richard, Caroline Rooryck, François Roubille, Cécile Rouzier, Annick Toutain, Agathe Vernier, Pierre-François Winum, Didier Scarlatti, Frederic Sacher, Momar Diouf, Philippe Chevalier, Philippe Charron, Estelle Gandjbakhch","doi":"10.1161/CIRCHEARTFAILURE.124.012492","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":10196,"journal":{"name":"Circulation: Heart Failure","volume":" ","pages":"e012492"},"PeriodicalIF":7.8000,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"<i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.\",\"authors\":\"Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Louis Vogel, Loïc Garçon, Philippe Maury, Floriane Fay, Christophe Beyls, Anne-Claire Bréhin, Laure Champ-Rigot, Claire Dauphin, Benjamin Dauriat, Pascal De Groote, Erwan Donal, Delphine Dupin-Deguine, Laurence Faivre, Alexandre Janin, Antoine Jobbe Duval, Guillaume Jondeau, Mikael Laredo, Isabelle Magnin, Eloi Marijon, Karine Nguyen, Aurélien Palmyre, Alexandre Perani, François Picard, Patricia Reant, Pascale Richard, Caroline Rooryck, François Roubille, Cécile Rouzier, Annick Toutain, Agathe Vernier, Pierre-François Winum, Didier Scarlatti, Frederic Sacher, Momar Diouf, Philippe Chevalier, Philippe Charron, Estelle Gandjbakhch\",\"doi\":\"10.1161/CIRCHEARTFAILURE.124.012492\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":10196,\"journal\":{\"name\":\"Circulation: Heart Failure\",\"volume\":\" \",\"pages\":\"e012492\"},\"PeriodicalIF\":7.8000,\"publicationDate\":\"2025-01-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Circulation: Heart Failure\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1161/CIRCHEARTFAILURE.124.012492\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Circulation: Heart Failure","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1161/CIRCHEARTFAILURE.124.012492","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}