ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8bp and 1bp) 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00220073
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