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Ⅰ型神经纤维瘤病 (neurofibromatosisⅠ ,NFⅠ )是源于神经嵴细胞分化异常而导致的多系统损害的常染色体显性遗传病。本文对NFⅠ的基因功能、基因突变研究进展、基因突变分析技术及基因治疗等进行了综述。
Neurofibromatosis I (NFI) is an autosomal dominant genetic disorder resulting from multiple systemic impairments due to abnormalities in neural crest cells. This article reviews the gene function, gene mutation research, gene mutation analysis and gene therapy of NFI.