A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

Keyphrases

• Ambulation 33%
• Cerebellar Ataxia 33%
• Conserved Residues 33%
• Disequilibrium Syndrome 33%
• Dysequilibrium Syndrome 100%
• Exonic 33%
• Founder Effect 33%
• Founder mutation 100%
• Haplotype Block 33%
• Heterogeneous Conditions 33%
• Late-onset Cerebellar Ataxia 33%
• LDL Receptor 66%
• Massively Parallel 33%
• Protein Function 33%
• Quadrupedal Locomotion 100%
• SNP Mapping 33%
• Truncal Ataxia 33%
• WDR81 33%

Biochemistry, Genetics and Molecular Biology

• Founder Effect 50%
• Gene Sequence 50%
• Protein Function 50%