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Literature summary for 1.13.11.5 extracted from
- A metabolic cause of spinal deformity (2010), Metab. Clin. Exp., 59, 140-143.
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| bone | - |
Homo sapiens | - |
| spinal cord | - |
Homo sapiens | - |
General Information
| General Information | Comment | Organism |
|---|---|---|
| metabolism | the enzyme is involved in tyrosine catabolism | Homo sapiens |
| additional information | mutations in homogentisate 1,2-dioxygenase cause alkaptonuria and subsequent ochronosis, an uncommon cause of backache. The phenotype includes limited spine mobility and chronic disk degeneration, overview | Homo sapiens |
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Release 2023.1 (January 2023)
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