摘要
角膜营养不良是一组临床表现多样的遗传性疾病。随着分子遗传学研究技术的发展,越来越多类型的角膜营养不良的致病基因及相关突变已经被确定。本文将从基因功能、突变位点、可能的致病原因等方面对各类型角膜营养不良及其相关基因的研究进展作一综述。
Corneal dystrophy is a kind of hereditary disease with various phenotypes. With the development of molecular genetics, more and more virulence genes and mutations that account for corneal dystrophies have been ascertained. We reviewed the recent advances in corneal dystrophy genes from gene function, mutant sites and the possible causes.
出处
《国际眼科杂志》
CAS
2008年第7期1429-1431,共3页
International Eye Science
