Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy.

doi:10.1093/hmg/7.1.121

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Article

Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy.

Human molecular genetics - 1 Jan 1998

Butler R, Leigh P N, McPhaul M J, Gallo J M

Abstract excerpt

X-linked spinal and bulbar muscular atrophy (SBMA) is a rare form of motor neuron degeneration linked to a CAG repeat expansion in the first exon of the androgen receptor gene coding for a polyglutamine tract. In order to investigate the properties of the SBMA androgen receptor in neuronal cells,...

Topics

Animals
Genetic Linkage
Humans
Mice
Muscular Atrophy, Spinal
Mutation
Peptides
Receptors, Androgen
Transcription, Genetic
X Chromosome

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