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Identification, analysis of deleterious SNPs of the human GSR gene and their effects on the structure and functions of associated proteins and other diseases

Hereditary glutathione reductase deficiency, caused by mutations of the GSR gene, is an autosomal recessive disorder characterized by decreased glutathione disulfide (GSSG) reduction activity and increased thermal instability. This study implemented computational analysis to screen the most likely m...

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Detalles Bibliográficos
Autores principales: Vyas, Bharti, Bhowmik, Ratul, Akhter, Mymoona, Ahmad, Farhan Jalees
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8971378/
https://www.ncbi.nlm.nih.gov/pubmed/35361806
http://dx.doi.org/10.1038/s41598-022-09295-6