PAH
Deellabo: | PGD DNA |
Gen (Gen Code): | PAH |
Aliases Gen: | PH; PKU; PKU1; PAH |
Gen ID (NCBI): | 5053 |
OMIM Gen ID: | 612349 |
Chromosomale locatie: | 12q22-q24.2 |
Genetische aandoening / Analyse: | Fenylketonurie (Phenylketonurie) |
OMIM aandoening ID: | 261600 |
Overerving: | AR |
Aliases aandoening: | PHENYLKETONURIA; PKU PHENYLALANINE HYDROXYLASE DEFICIENCY PAH DEFICIENCY OLIGOPHRENIA PHENYLPYRUVICA FOLLING DISEASE |