{"title":"导致遗传性 I 型蛋白质 S 缺乏症的新型剪接供体位点突变。","authors":"Yumi Sasaki, Jun Yamanouchi, Katsuto Takenaka","doi":"10.3400/avd.cr.23-00076","DOIUrl":null,"url":null,"abstract":"<p><p>Inherited Protein S (PS) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I PS deficiency following a close examination for recurrent pregnancy loss and identified the mutation responsible; a novel splice donor site mutation in intron 13 of the <i>PROS1</i> gene appeared to have caused a frameshift with premature termination at amino acid +551. These results will contribute to the creation of an accurate database and define the molecular basis for PS deficiency.</p>","PeriodicalId":7995,"journal":{"name":"Annals of vascular diseases","volume":"17 2","pages":"179-182"},"PeriodicalIF":0.6000,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11196177/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Novel Splice Donor Site Mutation Leading to Inherited Type I Protein S Deficiency.\",\"authors\":\"Yumi Sasaki, Jun Yamanouchi, Katsuto Takenaka\",\"doi\":\"10.3400/avd.cr.23-00076\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Inherited Protein S (PS) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I PS deficiency following a close examination for recurrent pregnancy loss and identified the mutation responsible; a novel splice donor site mutation in intron 13 of the <i>PROS1</i> gene appeared to have caused a frameshift with premature termination at amino acid +551. These results will contribute to the creation of an accurate database and define the molecular basis for PS deficiency.</p>\",\"PeriodicalId\":7995,\"journal\":{\"name\":\"Annals of vascular diseases\",\"volume\":\"17 2\",\"pages\":\"179-182\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-06-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11196177/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of vascular diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3400/avd.cr.23-00076\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/3/13 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PERIPHERAL VASCULAR DISEASE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of vascular diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3400/avd.cr.23-00076","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/3/13 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PERIPHERAL VASCULAR DISEASE","Score":null,"Total":0}
A Novel Splice Donor Site Mutation Leading to Inherited Type I Protein S Deficiency.
Inherited Protein S (PS) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I PS deficiency following a close examination for recurrent pregnancy loss and identified the mutation responsible; a novel splice donor site mutation in intron 13 of the PROS1 gene appeared to have caused a frameshift with premature termination at amino acid +551. These results will contribute to the creation of an accurate database and define the molecular basis for PS deficiency.
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