CFTR F508del/P750L的复合杂合性在两个汗氯、肺功能、生长和粪便弹性酶正常的兄弟姐妹中

{"title":"CFTR F508del/P750L的复合杂合性在两个汗氯、肺功能、生长和粪便弹性酶正常的兄弟姐妹中","authors":"Bernat, J, Hershenson, M, Innis, JW, Tayeh, M","doi":"10.7302/21549","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":485648,"journal":{"name":"Deep Blue (University of Michigan)","volume":"52 3","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Compound heterozygosity for CFTR F508del/P750L in two siblings with normal sweat chloride, lung function, growth and fecal elastase\",\"authors\":\"Bernat, J, Hershenson, M, Innis, JW, Tayeh, M\",\"doi\":\"10.7302/21549\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":485648,\"journal\":{\"name\":\"Deep Blue (University of Michigan)\",\"volume\":\"52 3\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-10-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Deep Blue (University of Michigan)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7302/21549\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Deep Blue (University of Michigan)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7302/21549","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}