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Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease

โœ Scribed by Tesshu Otagiri; Kenji Sugai; Kazuki Kijima; Hiroko Arai; Yukio Sawaishi; Mitsuteru Shimohata; Kiyoshi Hayasaka


Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
327 KB
Volume
51
Category
Article
ISSN
1435-232X

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Spectrum of mutations in Finnish patient
โœ Kaisa Silander; Pรคivi Meretoja; Vesa Juvonen; Jaakko Ignatius; Helena Pihko; Ari ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 304 KB ๐Ÿ‘ 2 views

Our patient material included families and sporadic patients of Finnish origin with the diagnosis of Charcot-Marie-Tooth (CMT) disease types 1 and 2, Dejerine-Sottas syndrome (DSS), and hereditary neuropathy with liability to pressure palsies (HNPP). We screened for mutations in the peripheral myeli