Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | O14832 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
PhyH | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | infantile-onset Adult Refsum's disease due to phytanoyl-CoA hydroxylase ((PHYH) c.164delT, p.L55fsX12) mutation. The challenges of a successful pregnancy in a patient with Adult Refsums disease due to phytanoyl-CoA hydroxylase deficiency | Homo sapiens |