Go to content
UR Home

Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy

Stöhr, H, Marquardt, A, Rivera, A, Kellner, U and Weber, Bernhard H. F. (1998) Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy. European Journal of Human Genetics 6 (4), pp. 400-405.

Full text not available from this repository.

at publisher (via DOI)

at PubMed


Abstract

Best's vitelliform macular dystrophy (Best's disease) is an autosomal dominant disorder of unknown causes and is typically characterised by an accumulation of lipofuscin-like material in the subretinal space of the macula. The disease gene has been localised to chromosome 11q12-13.1 within a 1.4 Mbp interval flanked by markers at D11S1765 and uteroglobin (UGB). Here we report the refined mapping ...

plus


Export bibliographical data



Item type:Article
Date:1998
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/sj.ejhg.5200196DOI
9781049PubMed ID
Keywords:Macular degeneration; Best's vitelliform macular dystrophy; chromosome 11; UV-damaged DNA-binding protein; candidate gene approach
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:35485
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