Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease
Pierce, Sarah B, Gulsuner, Suleyman, Stapleton, Gail A, Walsh, Tom, Lee, Ming K, Mandell, Jessica B, Morales, Augusto, Klevit, Rachel E, King, Mary-Claire, Rogers, R CurtisLanguage:
english
Journal:
Molecular Case Studies
DOI:
10.1101/mcs.a001107
Date:
May, 2016
File:
PDF, 2.32 MB
english, 2016