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Computational Analysis of a Novel SACS Gene Mutation with BioExtract Server

✍ Scribed by Yosr Bouhlal; Douglas M. Jennewein; Brent Anderson; Joe Reynoldson; Wiem Maamouri; Fayçal Hentati; Rim Amouri; Carol Lushbough

Book ID
107575449
Publisher
Humana Press Inc
Year
2011
Tongue
English
Weight
395 KB
Volume
44
Category
Article
ISSN
0895-8696

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Novel mutation of SACS gene in a Spanish
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✍ Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre C 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB

## Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor