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Vitelliform macular dystrophy 2
- ... macular degeneration. BEST BEST1_HUMAN BMD RP50 TU15B vitelliform macular dystrophy 2 (Best disease, bestrophin) VMD2 Tests of BEST1 PubMed ... K, Marquardt A, Weber BH. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other ... Citation on PubMed Yardley J, Leroy BP, ...
- ... are responsible for some cases of adult-onset vitelliform macular dystrophy. Several mutations have been identified in people with this disorder, most of which change a single protein building block (amino acid) in peripherin 2. These mutations alter the protein's structure or ...