Article
CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation.
Molecular and cellular endocrinology - 25 Mar 1996
Neuschmid-Kaspar F, Gast A, Peterziel H, Schneikert J, Muigg A, Ransmayr G, Klocker H, Bartsch G, Cato A C
Abstract excerpt
Expansion of CAG trinucleotide repeats in androgen receptor gene is present in patients with a rare X-linked inherited form of motor neuron disorder termed Kennedy's disease or spinal and bulbar muscular atrophy (SBMA). This is a late onset progressive disease often associated with mild signs of...
Topics
- Androgens
- Animals
- Base Sequence
- Cell Line
- Cells, Cultured
- Chlorocebus aethiops
- DNA Primers
- Female
- Gene Expression
- Humans
- Male
- Molecular Sequence Data
- Muscular Atrophy, Spinal
- Mutation
- Pedigree
- Receptors, Androgen
- Trinucleotide Repeats