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Novel cystatin B mutation and diagnostic PCR assay in an unverricht-lundborg progressive myoclonus epilepsy patient
(Wiley Subscription Services, Inc., A Wiley Company, 1997-09-19)
Two mutations in the cystatin B gene, a 3′ splice mutation and a stop codon mutation, were previously found in patients with progressive myoclonus epilepsy of Unverricht-Lundborg type [Pennacchio et al. (1996): Science ...