Pub. Date : 2012 Jun
PMID : 22633640
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | A phenylalanine loading test, cerebrospinal fluid for biogenic amines and pterins, guanosine triphosphate cyclohydrolase I enzyme activity, and direct exonic sequencing of GCH1 revealed a novel mutation (c.235_240delCTGAGC [p.L79_S80del]) in the GCH1 gene. | Phenylalanine | GTP cyclohydrolase 1 | Homo sapiens |