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Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112
Regulation of RasGRP via a phorbol ester-responsive C1 domain.
Tognon CE, Kirk HE, Passmore LA, Whitehead IP, Der CJ, Kay RJ. Tognon CE, et al. Among authors: passmore la. Mol Cell Biol. 1998 Dec;18(12):6995-7008. doi: 10.1128/MCB.18.12.6995. Mol Cell Biol. 1998. PMID: 9819387 Free PMC article.
67 results