Aleksandra A Martynova, Alexey A Kubanov, Nadezhda A Evtushenko, Anastasiya V Kosykh, Nikolay V Kondratyev, Arkadii K Beilin, Arfenya E Karamova, Ekaterina S Monchakovskaya, Ekaterina A Bogdanova, Karim A Azimov, Rustam H Ziganshin, Maria A Nefedova, Nina G Bozhanova, Elena V Zaklyazminskaya, Nadya G Gurskaya
{"title":"因外显子 19 的替代剪接和 VII 型胶原 FN III 样结构域的截断而产生的新的隐性萎缩性表皮松解症中间变体。","authors":"Aleksandra A Martynova, Alexey A Kubanov, Nadezhda A Evtushenko, Anastasiya V Kosykh, Nikolay V Kondratyev, Arkadii K Beilin, Arfenya E Karamova, Ekaterina S Monchakovskaya, Ekaterina A Bogdanova, Karim A Azimov, Rustam H Ziganshin, Maria A Nefedova, Nina G Bozhanova, Elena V Zaklyazminskaya, Nadya G Gurskaya","doi":"10.1093/bjd/ljae389","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":null,"pages":null},"PeriodicalIF":11.0000,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"New Recessive Dystrophic Epidermolysis Bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in FN III-like domain of type VII collagen.\",\"authors\":\"Aleksandra A Martynova, Alexey A Kubanov, Nadezhda A Evtushenko, Anastasiya V Kosykh, Nikolay V Kondratyev, Arkadii K Beilin, Arfenya E Karamova, Ekaterina S Monchakovskaya, Ekaterina A Bogdanova, Karim A Azimov, Rustam H Ziganshin, Maria A Nefedova, Nina G Bozhanova, Elena V Zaklyazminskaya, Nadya G Gurskaya\",\"doi\":\"10.1093/bjd/ljae389\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":9238,\"journal\":{\"name\":\"British Journal of Dermatology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":11.0000,\"publicationDate\":\"2024-10-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"British Journal of Dermatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/bjd/ljae389\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"British Journal of Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/bjd/ljae389","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DERMATOLOGY","Score":null,"Total":0}
New Recessive Dystrophic Epidermolysis Bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in FN III-like domain of type VII collagen.
期刊介绍:
The British Journal of Dermatology (BJD) is committed to publishing the highest quality dermatological research. Through its publications, the journal seeks to advance the understanding, management, and treatment of skin diseases, ultimately aiming to improve patient outcomes.