Stöhr, H. ; Marquardt, A. ; Rivera, A. ; Kellner, U. ; Weber, Bernhard H. F. 
Alternative Links zum Volltext:DOIPubmed
| Dokumentenart: | Artikel |
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| Titel eines Journals oder einer Zeitschrift: | European Journal of Human Genetics |
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| Verlag: | Stockton Press |
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| Band: | 6 |
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| Nummer des Zeitschriftenheftes oder des Kapitels: | 4 |
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| Seitenbereich: | S. 400-405 |
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| Datum: | 1998 |
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| Institutionen: | Medizin > Lehrstuhl für Humangenetik |
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| Identifikationsnummer: | | Wert | Typ |
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| 10.1038/sj.ejhg.5200196 | DOI | | 9781049 | PubMed-ID |
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| Stichwörter / Keywords: | Macular degeneration; Best's vitelliform macular dystrophy; chromosome 11; UV-damaged DNA-binding protein; candidate gene approach |
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| Dewey-Dezimal-Klassifikation: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin |
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| Status: | Veröffentlicht |
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| Begutachtet: | Ja, diese Version wurde begutachtet |
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| An der Universität Regensburg entstanden: | Nein |
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| Dokumenten-ID: | 35485 |
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Zusammenfassung
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 ...
Zusammenfassung
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 of the gene encoding the p127 kDa subunit (DDB1) of a UV damage-specific DNA binding protein within the D11S1765-UGB region. Northern blot analysis demonstrates an abundant expression of the DDB1 transcript in the retina suggesting a functional role for DDB1 in this tissue. These considerations together with the chromosomal localisation have led us to evaluate the possible involvement of DDB1 in the pathogenesis of Best's disease.
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