SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in...

Full description

Bibliographic Details
Main Authors: Sarah L. Nickerson, Renate Marquis-Nicholson, Karen Claxton, Fern Ashton, Ivone U. S. Leong, Debra O. Prosser, Jennifer M. Love, Alice M. George, Graham Taylor, Callum Wilson, R. J. McKinlay Gardner, Donald R. Love
Format: Article
Language:English
Published: MDPI AG 2015-10-01
Series:Microarrays
Subjects:
SACS
ARSACS
sacsin
autosomal recessive ataxia
microarray
exome sequencing
homozygosity
consanguinity
Online Access:http://www.mdpi.com/2076-3905/4/4/490

Internet

http://www.mdpi.com/2076-3905/4/4/490

Similar Items