Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma
Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense alleles altering p.Arg1034, a highly evolutionarily conserved amino acid, in 3 unrelated and ethnically diverse families affected by congenital gl...
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| Glavni autori: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Clinical Investigation
2022-12-01
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| Serija: | The Journal of Clinical Investigation |
| Teme: | |
| Online pristup: | https://doi.org/10.1172/JCI156967 |
| Oznake: |
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