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Progressive Myoclonus Epilepsy of Unverricht-Lundborg Type

โœ Scribed by Anna-Elina Lehesjoki; Marjaleena Koskiniemi


Book ID
109106907
Publisher
Wiley (Blackwell Publishing)
Year
1999
Tongue
English
Weight
603 KB
Volume
40
Category
Article
ISSN
0013-9580

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Novel cystatin B mutation and diagnostic
โœ Bespalova, Irina N.; Adkins, Steve; Pranzatelli, Michael; Burmeister, Margit ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 27 KB ๐Ÿ‘ 2 views

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 271:1731-1734]. We present here a new mutation 2404โŒฌTC: a 2-bp deletion within the