Riess, O. ; Noerremoelle, A. ; Collins, C. ; Mah, D. ; Weber, Bernhard H. F. 
; Hayden, M. R.
Alternative Links zum Volltext:DOIPubmed
| Dokumentenart: | Artikel |
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| Titel eines Journals oder einer Zeitschrift: | Nature Genetics |
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| Verlag: | Nature Publishing Group |
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| Band: | 1 |
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| Seitenbereich: | S. 104-108 |
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| Datum: | 1992 |
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| Institutionen: | Medizin > Lehrstuhl für Humangenetik |
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| Identifikationsnummer: | | Wert | Typ |
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| 10.1038/ng0592-104 | DOI | | 1338767 | PubMed-ID |
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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: | 35364 |
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Zusammenfassung
To identify expressed sequences within candidate regions for the Huntington's disease (HD) gene in 4p16.3, we isolated the gene encoding the beta subunit of the human cGMP phosphodiesterase (PDEB). We formally assessed this as a candidate gene for HD based on it's expression in brain, the demonstration of linkage disequilibrium between intragenic DNA markers and HD, and the demonstration that ...
Zusammenfassung
To identify expressed sequences within candidate regions for the Huntington's disease (HD) gene in 4p16.3, we isolated the gene encoding the beta subunit of the human cGMP phosphodiesterase (PDEB). We formally assessed this as a candidate gene for HD based on it's expression in brain, the demonstration of linkage disequilibrium between intragenic DNA markers and HD, and the demonstration that mice with a mutation in this gene have a reduction of neurons in particular brain regions. We investigated all 22 exons of PDEB and 5'−flanking region for point mutations in 16 HD patients of different ethnic origins using single strand conformational polymorphism analysis. The underlying DNA changes found initially exclusively in HD patients were excluded as the cause for HD.
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