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

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 gene wi...

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Detalles Bibliográficos
Autores principales: Du, Peng, Hassan, Reem N., Luo, Hualei, Xie, Jie, Zhu, Yue, Hu, Qiuyue, Yan, Jin, Jiang, Weiying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077164/
https://www.ncbi.nlm.nih.gov/pubmed/33405344
http://dx.doi.org/10.1002/mgg3.1590

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077164/
https://www.ncbi.nlm.nih.gov/pubmed/33405344
http://dx.doi.org/10.1002/mgg3.1590

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