Go to content
UR Home

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

Felbor, U, Schilling, H and Weber, Bernhard H. F. (1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Human Mutation 10 (4), pp. 301-309.

Full text not available from this repository.

at publisher (via DOI)

at PubMed


Abstract

Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as retinitis pigmentosa or macular degeneration are still unknown. Recently, a single case of adult ...

plus


Export bibliographical data



Item type:Article
Date:1997
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-JDOI
9338584PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35451
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