Whole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis
ABSTRACT Introduction Werner syndrome (WS) is a rare recessive disorder characterized by premature aging and metabolic abnormalities. WS is caused by mutations in the WS RecQ‐like helicase gene (WRN), which encodes the WRN RecQ‐like helicase protein. This study aimed to identify the deletion mutatio...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-06-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.70118 |
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