Results 141 to 148 of about 1,386 (148)

[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics
Objective: To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. Methods: This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong ...
P, Yang, C Z, Zeng, X W, Tao, S W, Rong, Y, Long, L K, Zeng   +5 more
openaire   +1 more source

Spectrum ofPEX6mutations in Zellweger syndrome spectrum patients

Human Mutation, 2010
Hans Waterham, Ronald Wanders
exaly  

Structures of the double‐ring AAA ATPase Pex1–Pex6 involved in peroxisome biogenesis

FEBS Journal, 2016
Tom Rapoport, Thomas Walz
exaly  

miRNA-Related Polymorphisms in miR-423 (rs6505162) and PEX6 (rs1129186) and Risk of Esophageal Squamous Cell Carcinoma in an Iranian Cohort

Genetic Testing and Molecular Biomarkers, 2017
Farkhondeh Behjati, Habibollah Mahmoodzadeh, Ziba Nariman-Saleh-Fam   +2 more
exaly  

Identification of intragenic mutations in the gene that affect peroxisome biogenesis and methylotrophic growth

FEMS Yeast Research, 2003
Taras Y Nazarko, Oleh Stasyk, Andriy Sibirny   +2 more
exaly  

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity

Journal of Applied Genetics, 2017
Rafał Płoski, Anna Tylki-Szymanska, Teresa J Stradomska   +2 more
exaly  

Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease

Proceedings of the National Academy of Sciences of the United States of America, 1998
Brian Geisbrecht, Stephen Gould, S J Gould   +2 more
exaly  

A Rare Case of Adult-onset Niemann-Pick Disease Type C with PEX6 Mutation: Novel Genetic Insights

International Journal of Clinical and Experimental Medical Sciences
exaly