GENE RESPONSIBLE FOR STARGARDT-LIKE DOMINANT MACULAR DYSTROPHY
摘要
The gene responsible for Stargardt-like macular dystrophy has been identified, along with its normal allelic form. The mutant gene encodes a mutant protein containing a frameshift mutation, resulting in abnormal fatty acid synthesis and transport in the retina. Also disclosed are assays for Stargardt-like macular dystrophy and therapies.
申请公布号
WO0187921(A3)
申请公布日期
2002.03.14
申请号
WO2001US15464
申请日期
2001.05.11
申请人
MERCK & CO., INC.;THE JOHNS HOPKINS UNIVERSITY;PETRUKHIN, KONSTANTIN;LI, WEN;ZHANG, KANG