Article
Phenotypic diversity resulting from a point mutation.
Folia neuropathologica - 1 Jan 2006
Sypecka Joanna, Domańska-Janik Krystyna
Abstract excerpt
Paralytic tremor (pt), a hereditary neurological disorder of rabbits, is a recessive, X-linked point mutation in exon 2 of the plp gene, responsible for substitution of 38 His by Glu in the PLP molecule. Pt genotype is expressed in a range of phenotypes, distinguished by the severity of neurological symptoms. Variable course of the disease, from totally asymptomatic to serious disorder, is observed even within...
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