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Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia

✍ Scribed by Q.-Z. Fei; W.-G. Tang; T.-Y. Rong; H.-D. Tang; J.-R. Liu; Z.-L. Guo; Y. Fu; Q. Xiao; X.-J. Wang; S.-B. He; L. Cao; S.-D. Chen


Book ID
111066669
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
132 KB
Volume
18
Category
Article
ISSN
1351-5101

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Screening of patients with hereditary sp
✍ C. Proukakis; M. Auer-Grumbach; K. Wagner; P.A. Wilkinson; E. Reid; M.A. Patton; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 31 KB πŸ‘ 1 views

Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr