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CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation
- Source :
- American Journal of Medical Genetics. 85:209-213
- Publication Year :
- 1999
- Publisher :
- Wiley, 1999.
-
Abstract
- We report on three brothers with mental retardation and a contracted CAG repeat in the androgen receptor (AR) gene. It is known that expansion of the CAG repeat in this gene leads to spinal and bulbar muscular atrophy (SBMA or Kennedy disease); however, contracted repeats have not yet been implicated in disease. As the range of the length of CAG repeats in the AR gene, like those of other genes associated with dynamic mutations, follows a normal distribution, the theoretical possibility of disease at both ends of the distribution should be considered.
- Subjects :
- Genetics
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
medicine.drug_class
Biology
Androgen
medicine.disease
Genetic determinism
nervous system diseases
Androgen receptor
Spinal and bulbar muscular atrophy
Endocrinology
Internal medicine
medicine
Dynamic mutation
Trinucleotide repeat expansion
Gene
Genetics (clinical)
X chromosome
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 85
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi...........f30594e1eda252973fd922cab64b6151