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PEX6 Mutations in Peroxisomal Biogenesis Disorders

Purpose: Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic dysfunction, and other abnormalities resulting from aberrant peroxisomal function caused by mutations in PEX genes. With no treatments currently avai...

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Main Authors: Matthew D. Benson, MD, Kimberly M. Papp, BSc, Geoffrey A. Casey, BSc(EE), BSc(MolBiol), Alina Radziwon, BSc, Chris D. St Laurent, BSc, Lance P. Doucette, PhD, Ian M. MacDonald, MD, CM
Format: Artigo
Language:Inglês
Published: Elsevier 2021-06-01
Series:Ophthalmology Science
Subjects:
Hearing loss
Peroxisomal biogenesis disorders
Peroxisome
PEX6
Retinal degeneration
Usher syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2666914521000269
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