M. Fleury, R. Epaud, A. Coulomb L’Herminé, H. Corvol, H. Ducou le Pointe, P. Fanen, C. Fletcher, N. Jedidi, C. Perisson, M. Renoux, L. Roditis, C. Sileo, C. Thumerelle, M. Legendre, A. De Becdelièvre, C. Louvrier, N. Nathan
{"title":"表面活性物质相关基因 SFTPB 双重突变儿科患者的表型和基因型描述","authors":"M. Fleury, R. Epaud, A. Coulomb L’Herminé, H. Corvol, H. Ducou le Pointe, P. Fanen, C. Fletcher, N. Jedidi, C. Perisson, M. Renoux, L. Roditis, C. Sileo, C. Thumerelle, M. Legendre, A. De Becdelièvre, C. Louvrier, N. Nathan","doi":"10.1016/j.rmra.2023.11.475","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":21465,"journal":{"name":"Revue des Maladies Respiratoires Actualités","volume":"17 4","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Description du phénotype et du génotype de patients pédiatriques présentant des mutations bi-alléliques du gène lié au surfactant SFTPB\",\"authors\":\"M. Fleury, R. Epaud, A. Coulomb L’Herminé, H. Corvol, H. Ducou le Pointe, P. Fanen, C. Fletcher, N. Jedidi, C. Perisson, M. Renoux, L. Roditis, C. Sileo, C. Thumerelle, M. Legendre, A. De Becdelièvre, C. Louvrier, N. Nathan\",\"doi\":\"10.1016/j.rmra.2023.11.475\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":21465,\"journal\":{\"name\":\"Revue des Maladies Respiratoires Actualités\",\"volume\":\"17 4\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revue des Maladies Respiratoires Actualités\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.rmra.2023.11.475\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revue des Maladies Respiratoires Actualités","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.rmra.2023.11.475","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}