专利检索 ap:("András Simon" OR "Ulf Eriksson" OR "Thaddeaus P. Dryja" OR "Eliot L. Berson" OR "Hioyuji Yamamoto") AND inv:"Thaddeaus P. Dryja" 第 1 页

1.

发明授权
Mutations in nucleic acid molecules encoding 11-CIS retinol dehydrogenase, the mutated proteins, and uses thereof 失效

公开(公告)号：US06358728B1

公开(公告)日：2002-03-19

申请号：US09880427

申请日：2001-06-13

申请人： András Simon , Ulf Eriksson , Thaddeaus P. Dryja , Eliot L. Berson , Hioyuji Yamamoto

发明人： András Simon , Ulf Eriksson , Thaddeaus P. Dryja , Eliot L. Berson , Hioyuji Yamamoto

IPC分类号： C12N120

CPC分类号： C12N9/0006 , C12N2799/021 , C12Q1/6883 , C12Q2600/156 , C12Y101/01105

摘要： The invention relates to mutations in the gene encoding 11-cis retinal dehyrogenase. The mutations in the gene and in the resulting encoded protein are correlated to ocular disorders, such as fundus albipunctatus.