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Mutation: MCHR2 gene
Mutation: LAMA3 gene
Dieser Test ist spezifisch für die SINE-Mutation im MITF-Gen
The symptoms usually become apparent in the first months of life
Progressive Retinaatrophie (PRA-BBS2) evg-analysen Mutation: MCHR2 geneProgressive retinal atrophies (PRA) are a group of hereditary diseases characterized by vision impairment due to retinal degeneration, which is a result of progressive cell death of the rod and cone photoreceptors in the retina. A late onset form of PRA called BBS2 PRA was characterized in Shetland Sheepdogs. Clinical symptoms, which include retinal thinning, atrophy of the optic disc, retinal vascular weakening, night blindness and decline in
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