MUTATIONS IN NUCLEIC ACID MOLECULES ENCODING 11-CIS RETINOL DEHYDROGENASE, THE MUTATED PROTEINS, AND USES THEREOF
摘要
<p>The invention relates to mutations in the gene encoding 11-cis retinal dehydrogenase. The mutations in the gene and in the resulting encoded protein are correlated to ocular disorders, such as fundus albipunctatus.</p>