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

European Journal of Human Genetics

Volumn 8, Issue 4, 2000, Pages 286-292

  Krämer, Franziska ^a   White, Karen ^a   Pauleikhoff, Daniel ^b   Gehrig, Andrea ^a   Passmore, Lori ^a,c   Rivera, Andrea ^a   Rudolph, Günther ^d   Kellner, Ulrich ^e   Andrassi, Monika ^f   Lorenz, Birgit ^f   Rohrschneider, Klaus ^g   Blankenagel, Anita ^g   Jurklies, Bernhard ^h   Schilling, Harald ^h   Schütt, Florian ^g   Holz, Frank G ^g   Weber, Bernhard H F ^a,i  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b ST FRANZISKUS HOSPITAL   (Germany)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^g Augenklinik   (Germany)

^h Augenklinik   (Germany)

ⁱ UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Adult vitelliform macular dystrophy; Age related macular degeneration; Best disease; Bestrophin; Mutation analysis; VMD2

Indexed keywords

LIPOFUSCIN;

ARTICLE; CONTROLLED STUDY; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; SUBRETINAL NEOVASCULARIZATION;

EID: 0342804259     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200447     Document Type: Article

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