In silico profiling of non-synonymous SNPs in IDS gene for early diagnosis of Hunter syndrome
Abstract Background Single amino acid substitutions in the Iduronate-2-sulfatase enzyme result in destabilization of the protein and cause a genetic disorder called Hunter syndrome. To gain functional insight into the mutations causing Hunter syndrome, various bioinformatics tools were employed, and...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
SpringerOpen
2022-03-01
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Series: | Egyptian Journal of Medical Human Genetics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s43042-022-00271-3 |