首页 正文

Human molecular genetics. 2002 Nov 1;11(23):2919-28. doi: 10.1093/hmg/11.23.2919 Q23.22025

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

与头发毛囊色素缺乏和头发角蛋白减少综合症相关的TFIIH修复/转录因子水平降低 翻译改进

Elena Botta  1, Tiziana Nardo, Alan R Lehmann, Jean-Marc Egly, Antonia M Pedrini, Miria Stefanini

作者单位 +展开

作者单位

  • 1 Istituto di Genetica Molecolare CNR, via Abbiategrasso, 207, 27100 Pavia, Italy.
  • DOI: 10.1093/hmg/11.23.2919 PMID: 12393803

    摘要 Ai翻译

    Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucleotide excision repair (NER) as a consequence of mutations in XPD, XPB or TTDA, three genes that are all related to TFIIH, the multiprotein complex involved in NER and transcription. Here we show that all the mutations found in TTD cases, irrespective of whether they are homozygotes, hemizygotes or compound heterozygotes, cause a substantial and specific redu... ...点击完成人机验证后继续浏览
    Copyright © Human molecular genetics. 中文内容为AI机器翻译,仅供参考!

    相关内容

    期刊名:Human molecular genetics

    缩写:HUM MOL GENET

    ISSN:0964-6906

    e-ISSN:1460-2083

    IF/分区:3.2/Q2

    文章目录 更多期刊信息

    全文链接
    引文链接
    复制
    已复制!
    推荐内容
    Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy