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publicationDate 2017-01-17-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-9546402-B2
titleOfInvention Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein
abstract An ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP) in a subject is provided which comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein that mutation is indicative of an hereditary spastic paraplegias (HSP).
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