Go to content
UR Home

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, F G and Weber, Bernhard H. F. (2000) 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 8 (4), pp. 286-292.

Full text not available from this repository.

at publisher (via DOI)

at PubMed


Abstract

Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium. In this study we have further characterised the spectrum of VMD2 mutations in a series of 41 unrelated Best disease patients. Furthermore we expanded our analysis ...

plus


Export bibliographical data



Item type:Article
Date:2000
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/sj.ejhg.5200447DOI
10854112PubMed ID
Keywords:VMD2; Best disease; bestrophin; adult vitelliform macular dystrophy; age-related macular degeneration; mutation analysis
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35486
Owner only: item control page
  1. Homepage UR

University Library

Publication Server

Contact:

Publishing: oa@ur.de

Dissertations: dissertationen@ur.de

Research data: daten@ur.de

Contact persons