H Kobayashi, M Kasahara, M Hino, H Yoshimura, S Takahara, K Ikeda, C Son, T Iwakura, A Yoshimoto, T Ishihara, Y Ogawa
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{"title":"在日本甲状旁腺功能减退、耳聋和肾发育不良综合征亲缘关系中发现一种新的杂合缺失GATA3移码突变。","authors":"H Kobayashi, M Kasahara, M Hino, H Yoshimura, S Takahara, K Ikeda, C Son, T Iwakura, A Yoshimoto, T Ishihara, Y Ogawa","doi":"10.1007/BF03347383","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"29 9","pages":"851-3"},"PeriodicalIF":3.9000,"publicationDate":"2006-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF03347383","citationCount":"8","resultStr":"{\"title\":\"A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.\",\"authors\":\"H Kobayashi, M Kasahara, M Hino, H Yoshimura, S Takahara, K Ikeda, C Son, T Iwakura, A Yoshimoto, T Ishihara, Y Ogawa\",\"doi\":\"10.1007/BF03347383\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":15651,\"journal\":{\"name\":\"Journal of Endocrinological Investigation\",\"volume\":\"29 9\",\"pages\":\"851-3\"},\"PeriodicalIF\":3.9000,\"publicationDate\":\"2006-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1007/BF03347383\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Endocrinological Investigation\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/BF03347383\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Endocrinological Investigation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/BF03347383","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
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