Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing-Reference-Cited by-同舟云学术

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Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing

Published:2013-02 Issue: Volume:417 Page:57-61
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Sun Yan,Wang Lixia,Wei Xiaoming,Zhu Qian,Yang Yun,Lan Zhangzhang,Qu Ning,Chu Yuxing,Wang Yuhui,Yang Shuang,Liang Yu,Wang Wei,Yi Xin

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference20 articles.

1. Genetics and molecular basis of human peroxisome biogenesis disorders;Waterham;Biochim Biophys Acta,2012

2. Peroxisome biogenesis disorders;Steinberg;Biochim Biophys Acta,2006

3. The peroxisome biogenesis disorders;Gould,2001

4. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders;Wanders;Clin Genet,2005

5. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C;Zeharia;J Hum Genet,2007

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2. Ultra-Widefield Imaging of Retinal Flecks and Corresponding Subretinal Hyperreflective Deposits in Heimler Syndrome;Retina;2023-01

3. Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype;Molecular Genetics and Metabolism;2021-11

4. A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review;Translational Pediatrics;2021-02

5. A synonymous mutation in exon 39 of FBN1 causes exon skipping leading to Marfan syndrome;Genomics;2020-11

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