Gene responsible for stargardt-like dominant macular dystrophy
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United States of America Patent
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Feb 20, 2007
Grant Date -
Nov 2, 2006
app pub date -
Jun 28, 2006
filing date -
May 16, 2000
priority date (Note) -
Expired
status (Latency Note)
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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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