Gene responsible for stargardt-like dominant macular dystrophy

Details Gene responsible for stargardt-like dominant macular dystrophy Gene responsible for stargardt-like dominant macular dystrophy

2007-02-20

2007-02-20

Saidha, Tekchand (Department: 1652)

Chemistry: molecular biology and microbiology

Micro-organism, tissue cell culture or enzyme using process...

Recombinant dna technique included in method of making a...

C435S252300, C435S320100, C536S023100

Reexamination Certificate

active

11477042

ABSTRACT:
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.

REFERENCES:
patent: 7091005 (2006-08-01), Petrukhin et al.

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