The identification and study of known and novel variants in spinocerebellar ataxia
<p> The study of how genotypes encode phenotypes is germane if not central to every area of genetics research. This thesis focuses on the application of targeted and Whole Exome Sequencing (WES) in the discovery, identification and understanding of Mendelian disorders primarily with Spinocereb...
| Main Author: | |
|---|---|
| Language: | EN |
| Published: |
The University of Chicago
2015
|
| Subjects: | |
| Online Access: | http://pqdtopen.proquest.com/#viewpdf?dispub=3718546 |