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.

Ishikawa, Kinya

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] - American journal of human genetics Aug 2005 - 280-96 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0002-9297

10.1086/432518 doi


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