Genetic mutation and aqueous humor metabolites alterations in a family with Marfan syndrome
This study used four generations of a Chinese family to reveal the genetic etiology and ocular manifestation pathogenesis of Marfan syndrome (MFS) through whole genome sequencing (WGS) and metabolomics analysis. In the study, we explored the pathogenic gene variant and aqueous humor (AH) metabolites...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844023109042 |