Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 1991-08, Vol.88 (15), p.6481-6485
Hauptverfasser:	Sung, Ching-Hwa, Davenport, Carol M., Hennessey, Jill C., Maumenee, Irene H., Jacobson, Samuel G., Heckenlively, John R., Nowakowski, Rodney, Fishman, Gerald, Gouras, Peter, Nathans, Jeremy
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Base Sequence Biological and medical sciences DNA DNA - genetics DNA - isolation & purification Exons Female Gels Genes Genes, Dominant Genetic mutation Genetic screening Humans Male Medical sciences Molecular Sequence Data Mutation Night Blindness - etiology Night Blindness - genetics Nucleic Acid Hybridization Oligonucleotide Probes Ophthalmology Pedigree Point mutation Polymerase Chain Reaction Retinal pigments Retinitis pigmentosa Retinitis Pigmentosa - genetics Retinopathies rhodopsin Rhodopsin - metabolism Visual Fields
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!