Original paper
SLC52A2 mutations cause SCABD2 phenotype: A second report
Volume: 104, Pages: 195 - 199
Published: Jan 1, 2018
Abstract
Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs. The phenotype of a consanguineous Iranian family was characterized using clinical testing and pedigree analysis. Whole-exome sequencing was used to identify...
Paper Details
Title
SLC52A2 mutations cause SCABD2 phenotype: A second report
Published Date
Jan 1, 2018
Volume
104
Pages
195 - 199
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Notes
History