Article
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
Human molecular genetics - 1 Feb 1998
Del-Favero J, Krols L, Michalik A, Theuns J, Löfgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin J J, Van Broeckhoven C
Abstract excerpt
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCAII) was previously mapped by linkage analysis studies to chromosome 3p12-p21.1 (SCA7). Positional cloning efforts have recently identified a novel gene, SCA7 , containing a translated CAG repeat, expanded in SCA7 patients. We clo...
Topics
- Alleles
- Base Sequence
- Belgium
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 3
- Cloning, Molecular
- Cosmids
- DNA, Complementary
- Female
- Gene Expression
- Humans
- Macular Degeneration
- Male
- Molecular Sequence Data