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Article

PEX6 Mutations in Peroxisomal Biogenesis Disorders

25 May 2021

Abstract excerpt

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 available, we sought to investigate the disease mechanism in a patient with a PBD caused by defects in PEX6 and to probe...

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PMID: 36249295
DOI: 10.1016/j.xops.2021.100028

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