Abstract:
:By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop signal and resulting in a rhodopsin molecule that is, respectively, 1 and 10 amino acids longer. The clinical phenotype of the patients is described and is compared with that associated with other mutations in the same region of the gene.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Horn M,Humphries P,Kunisch M,Marchese C,Apfelstedt-Sylla E,Fugi L,Zrenner E,Kenna P,Gal A,Farrar Jdoi
10.1007/BF00220073keywords:
subject
Has Abstractpub_date
1992-11-01 00:00:00pages
255-7issue
3eissn
0340-6717issn
1432-1203journal_volume
90pub_type
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