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Gene responsible for stargardt-like dominant macular dystrophy
Gene responsible for stargardt-like dominant macular dystrophy
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机译:导致stargardt样占优势的黄斑营养不良的基因
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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.
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