首页>
外国专利>
Mutations in the C7orf11 (TTDN1) gene causative of non-photosensitive trichothiodystrophy
Mutations in the C7orf11 (TTDN1) gene causative of non-photosensitive trichothiodystrophy
展开▼
机译:C7orf11(TTDN1)基因突变引起非光敏性三硫代营养不良
展开▼
页面导航
摘要
著录项
相似文献
摘要
The invention is the demonstration that mutations of the C7orf11 nucleic acid sequence leads to the development of non-photosensitive trichothiodystrophy. The invention comprises methods of screening for and detection of non-photosensitive TTD carriers, prenatal screening and diagnosis, diagnosis of non-photosensitive TTD, drug and gene therapy, manufacture of the protein, and antibodies as well as development of animal models of disease for the testing of pharmaceutical agents.
展开▼