Gene responsible for stargardt-like dominant macular dystrophy
First Claim
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1. An isolated Elongation of Fatty Acids (ELF) protein, free from associated proteins, comprising the amino acid sequence set forth in FIG. 3 (SEQ ID NO:
- 1).
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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.
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8 Claims
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1. An isolated Elongation of Fatty Acids (ELF) protein, free from associated proteins, comprising the amino acid sequence set forth in
FIG. 3 (SEQ ID NO:
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5. A vector comprising an ELF expression cassette, wherein said expression cassette comprises cDNA sequence of SEQ ID NO:
- 3 encoding an ELF protein.
- View Dependent Claims (6, 7, 8)
Specification