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Title
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
Authors
d’Addio, Marilena
Abstract
Characterizes a number of independent missense mutations with respect to processing and subcellular distribution on expression in COS-7 cells in order to shed light into the molecular pathogenesis of ocular albinism. Structure-function relationships of the ocular albanism type 1 (OA1) protein; Major pathogenic mechanism in OA1; Description of OA1.