Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Bauer P; Leshinsky-Silver E; Blumkin L; Schlipf N; Schröder C; Schicks J; Lev D; Riess O; Lerman-Sagie T; Schöls L; Neurogenetics, 2012, vol. 13, issue 1, p 73, ISSN 13646753. ISBN 13646753.

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