Now showing items 1-2 of 2
No association between DFNA6 and Pro250Arg mutation in FGFR3
(John Wiley & Sons, Inc., 1999-10-15)
No abstract.
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 ...