Article
Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.
Somatic cell and molecular genetics - 1 Jan 1994
Ambrose Christine M, Duyao Mabel P, Barnes Glenn, Bates Gillian P, Lin Carol S, Srinidhi Jayalakshmi, Baxendale Sarah, Hummerich Holger, Lehrach Hans, Altherr Michael, Wasmuth John, Buckler Alan, Church Deanna, Housman David, Berks Mary, Micklem Gos, Durbin Richard, Dodge Alan, Read Andrew, Gusella James, MacDonald Marcy E
Abstract excerpt
Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expanded, unstable trinucleotide repeat in a novel 4p16.3 gene. To lay the foundation for exploring the pathogenic mechanism in HD, we have determined the structure of the disease gene an...
Topics
- Adult
- Alleles
- Base Sequence
- Cell Line
- Codon
- DNA, Complementary
- Exons
- Female
- Fetal Diseases
- Gene Expression