Cooper D N, Schmidtke J
Hum Genet. 1987 Sep;77(1):66-75. doi: 10.1007/BF00284717.
Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means to diagnose inherited disease as the DNA level. We present here a list of recent reports of both direct and indirect analysis of human inherited disease which is intended to serve as a guide to current molecular genetic approaches to diagnostic medicine.
重组DNA技术极大地增进了我们对人类基因组分子病理学的了解,同时也提供了在DNA水平诊断遗传性疾病的方法。我们在此列出近期关于人类遗传性疾病直接和间接分析的报告清单,旨在为当前诊断医学的分子遗传学方法提供指导。