ISSN:
1432-1203
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Biologie
,
Medizin
Notizen:
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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00220073