| 摘要 |
The disclosure relates to genetic mutations in UBIAD1 gene that segregate with Schnyder s crystalline corneal dystrophy. The disclosure provides methods for detecting such mutations as a diagnostic for Schnyder s crystalline corneal dystrophy either before or after the onset of clinical symptoms. Also provided are screening methods for identifying medical conditions related to cholesterol metabolism, including atherosclerosis, risk of future loss of vision, and future need for corneal transplantation.
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