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

2006-08-15

2006-08-15

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

07091005

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: 6812339 (2004-11-01), Venter et al.
patent: WO 00/70945 (2000-11-01), None
Sequence alignment between SEQ ID No. 5193 in U. S. Patent 6,812,339 and Applicants' DNA of SEQ ID No. 4.
Sequence alignment between SEQ ID No. 11064 in U. S. Patent 6,812,339 and Applicants' protein of SEQ ID No. 2.
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