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Molecular genetic testing for hereditary ataxia

1 Feb 2018

Abstract excerpt

Purpose of review Because of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis. Interrogation of multiple genes has become a popular diagnostic approach as the cost of sequence analysis has decreased and the number of genes associated with overlapping phenotypes has increased. We describe the benefits and limitations of molecular...

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PMID: 29517052
DOI: 10.1212/cpj.0000000000000421

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