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Unverricht-Lundborg disease with cystatin B gene abnormalities

✍ Scribed by Kuriko Kagitani-Shimono; Katsumi Imai; Nobuhiko Okamoto; Jiro Ono; Shintaro Okada


Book ID
117590962
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
400 KB
Volume
26
Category
Article
ISSN
0887-8994

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Novel cystatin B mutation and diagnostic
✍ Bespalova, Irina N.; Adkins, Steve; Pranzatelli, Michael; Burmeister, Margit 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 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 2404⌬TC: a 2-bp deletion within the