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Literature summary for 3.5.1.12 extracted from
- Biotinidase deficiency: novel mutations in Algerian patients (2014), Gene, 536, 193-196.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| genotyping of biotinidase deficiency algerian patient genes, PCR, mutation analysis reveals three mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3 | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | P43251 | - |
- |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated, phenotypes, overview | Homo sapiens |
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Release 2023.1 (January 2023)
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