| Phenotype: | Hyperphenylalaninemia, BH4-deficient, C |
|---|---|
| Dna Change: | c.68G>A |
| Protein Change: | p.Gly23Asp |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 1 |
| Transcript: | NM_000320.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Malta | Maltese | NA | 3.3% carrier rate | NA | Farrugia R et al., 2007Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE, . Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.. Mol. Genet. Metab.. 2007; 90(3):277-83 |
Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE, Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.Mol. Genet. Metab.. 2007; 90(3):277-83