A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

Background: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally caused by mutations in the PEX1, PEX6, PEX10, PEX12,...

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Bibliographic Details
Main Authors: Natalia A. Semenova, Marina V. Kurkina, Andrey V. Marakhonov, Elena L. Dadali, Natalia N. Taran, Tatyana V. Strokova
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Zellweger syndrome spectrum
PEX26 gene
Cholestasis
Hepatic dysfunction
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000483

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http://www.sciencedirect.com/science/article/pii/S2214426921000483

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