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Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

A family is described in which an 8 base pair deletion (nucleotides 5252-5259, codons 341-343) of the rhodopsin gene cosegregates with autosomal dominant retinitis pigmentosa (adRP). The deletion results in a shift in the reading frame, causing a rhodopsin molecule extended by one residue and substa...

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Bibliographische Detailangaben
Hauptverfasser: Apfelstedt-Sylla, E, Kunisch, M, Horn, M, Rüther, K, Gerding, H, Gal, A, Zrenner, E
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1993
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC504584/
https://ncbi.nlm.nih.gov/pubmed/8025047
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