Aneeta Francis, A. George, Priya Ashok, R. Chandran
{"title":"PROC 基因第 3 外显子第 42 密码子 c.125G>A (p.Arg42His) 的新型同卵错义突变导致蛋白 C 缺乏症,并表现为新生儿白斑性紫癜","authors":"Aneeta Francis, A. George, Priya Ashok, R. Chandran","doi":"10.25259/ijdvl_618_2023","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":513160,"journal":{"name":"Indian Journal of Dermatology, Venereology and Leprology","volume":"136 36","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel homozygous missense mutation in exon 3 at codon 42 c.125G>A (p.Arg42His) in the PROC gene causing protein C deficiency and presenting as neonatal purpura fulminans\",\"authors\":\"Aneeta Francis, A. George, Priya Ashok, R. Chandran\",\"doi\":\"10.25259/ijdvl_618_2023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":513160,\"journal\":{\"name\":\"Indian Journal of Dermatology, Venereology and Leprology\",\"volume\":\"136 36\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-04-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Dermatology, Venereology and Leprology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/ijdvl_618_2023\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Dermatology, Venereology and Leprology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/ijdvl_618_2023","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A novel homozygous missense mutation in exon 3 at codon 42 c.125G>A (p.Arg42His) in the PROC gene causing protein C deficiency and presenting as neonatal purpura fulminans