An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. [electronic resource]
Producer: 20050923Description: 280-96 p. digitalISSN:- 0002-9297
- 5' Untranslated Regions
- Animals
- Antibodies -- chemistry
- Brain -- metabolism
- Chromosomes, Human, Pair 16
- Cloning, Molecular
- DNA Mutational Analysis
- DNA Primers -- chemistry
- Exons
- Family Health
- Genetic Linkage
- Genetic Markers
- Genotype
- Golgi Apparatus -- metabolism
- Guanine Nucleotide Exchange Factors -- genetics
- Haplotypes
- Heterozygote
- Humans
- Immunohistochemistry
- Immunoprecipitation
- Introns
- Microsatellite Repeats
- Models, Genetic
- Mutation
- Polymorphism, Single Nucleotide
- Protein Binding
- Protein Structure, Tertiary
- RNA, Messenger -- metabolism
- Rabbits
- Reverse Transcriptase Polymerase Chain Reaction
- Spectrin -- genetics
- Spinocerebellar Ataxias -- genetics
- Tissue Distribution
- rho GTP-Binding Proteins -- metabolism
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.