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A novel nonsense mutation in theDMP1gene in a Japanese family with autosomal recessive hypophosphatemic rickets

✍ Scribed by Ryusuke Koshida; Hideki Yamaguchi; Koji Yamasaki; Wakaba Tsuchimochi; Tadato Yonekawa; Masamitsu Nakazato


Publisher
Springer
Year
2010
Tongue
English
Weight
292 KB
Volume
28
Category
Article
ISSN
0914-8779

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## 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