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Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia

✍ Scribed by Wakil, S.M.; Monies, D.M.; Ramzan, K.; Hagos, S.; Bastaki, L.; Meyer, B.F.; Bohlega, S.


Book ID
121710507
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
553 KB
Volume
86
Category
Article
ISSN
0009-9163

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Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of the lower limbs. Using samples from a large Omani family we re