Microarrays | |
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia | |
Sarah L. Nickerson1  Renate Marquis-Nicholson2  Karen Claxton1  Fern Ashton1  Ivone U. S. Leong1  Debra O. Prosser1  Jennifer M. Love1  Alice M. George1  Graham Taylor2  Callum Wilson4  R. J. McKinlay Gardner3  Donald R. Love1  | |
[1] Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand; E-Mails:;Centre for Translational Pathology, University of Melbourne, Corner Grattan Street and Royal Parade, Parkville, Victoria 3010, Australia; E-Mails:;Clinical Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand; E-mail:;Paediatric Metabolic Service, Starship Children’s Hospital, Auckland 1148, New Zealand; E-Mail: | |
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DOI : 10.3390/microarrays4040490 | |
来源: mdpi | |
【 摘 要 】
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 exon 10 of the
【 授权许可】
CC BY
© 2015 by the authors; licensee MDPI, Basel, Switzerland.
【 预 览 】
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RO202003190004435ZK.pdf | 1007KB | download |