Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 1 of 1 for “"Best Disease"”.
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Molecular and Biochemical Investigations into VMD2, the gene associated with Best Disease
Best disease (OMIM 153700) is an early-onset, autosomal dominant maculopathy characterized by egg yolk-like lesions in the central retina. The disease gene, the vitelliform macular dystrophy gene type 2 (VMD2), encodes a 585-aa VMD2 transmembrane protein, termed bestrophin. The protein is …