Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree

Abstract Background Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene. The aim of our study was to establish a comprehensive genetic diagnosis strategy for the pathogenicity analysis of the SUOX...

Full description

Bibliographic Details
Main Authors: Peng Du, Reem N. Hassan, Hualei Luo, Jie Xie, Yue Zhu, Qiuyue Hu, Jin Yan, Weiying Jiang
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
homocysteine
isolated sulfite oxidase deficiency
novel mutation
pathogenic identification
sulfite oxidase
SUOX
Online Access:https://doi.org/10.1002/mgg3.1590

Internet

https://doi.org/10.1002/mgg3.1590

Similar Items