Feng Ding , He Zhang , Xiangxiang Liu , Lin Lei , Hongyi Zhang , Zhichao Liu , Mutong Fang , Shuihua Lu
{"title":"中国一名x连锁严重联合免疫缺陷男孩IL2RG剪接位点突变的鉴定","authors":"Feng Ding , He Zhang , Xiangxiang Liu , Lin Lei , Hongyi Zhang , Zhichao Liu , Mutong Fang , Shuihua Lu","doi":"10.1016/j.gendis.2025.101515","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101515"},"PeriodicalIF":6.9000,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency\",\"authors\":\"Feng Ding , He Zhang , Xiangxiang Liu , Lin Lei , Hongyi Zhang , Zhichao Liu , Mutong Fang , Shuihua Lu\",\"doi\":\"10.1016/j.gendis.2025.101515\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":12689,\"journal\":{\"name\":\"Genes & Diseases\",\"volume\":\"12 5\",\"pages\":\"Article 101515\"},\"PeriodicalIF\":6.9000,\"publicationDate\":\"2025-01-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genes & Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2352304225000042\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes & Diseases","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2352304225000042","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
期刊介绍:
Genes & Diseases is an international journal for molecular and translational medicine. The journal primarily focuses on publishing investigations on the molecular bases and experimental therapeutics of human diseases. Publication formats include full length research article, review article, short communication, correspondence, perspectives, commentary, views on news, and research watch.
Aims and Scopes
Genes & Diseases publishes rigorously peer-reviewed and high quality original articles and authoritative reviews that focus on the molecular bases of human diseases. Emphasis will be placed on hypothesis-driven, mechanistic studies relevant to pathogenesis and/or experimental therapeutics of human diseases. The journal has worldwide authorship, and a broad scope in basic and translational biomedical research of molecular biology, molecular genetics, and cell biology, including but not limited to cell proliferation and apoptosis, signal transduction, stem cell biology, developmental biology, gene regulation and epigenetics, cancer biology, immunity and infection, neuroscience, disease-specific animal models, gene and cell-based therapies, and regenerative medicine.