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The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3

✍ Scribed by Molho-Pessach, Vered; Suarez, José; Perrin, Christophe; Chiaverini, Christine; Doviner, Victoria; Tristan-Clavijo, Enriqueta; Colmenero, Isabel; Giuliano, Fabienne; Torrelo, Antonio; Zlotogorski, Abraham


Book ID
119293542
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
787 KB
Volume
57
Category
Article
ISSN
0923-1811

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## Communicated by Christine Van Broeckhoven Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia, progressive spastic gait abnormalities, and an extensor-plantar response. It is genetically very heterogeneous, with 28 Human Genome