A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified...

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Bibliographic Details
Main Authors: Rampoldi, L, Dobson-Stone, C, Rubio, J, Danek, A, Chalmers, R, Wood, N, Verellen, C, Ferrer, X, Malandrini, A, Fabrizi, G, Brown, R, Vance, J, Pericak-Vance, M, Rudolf, G, Carrè, S, Alonso, E, Manfredi, M, Németh, A, Monaco, A
Format: Journal article
Language:English
Published: 2001