AGXT
Deellabo: | PGD DNA |
Gen (Gen Code): | AGXT |
Aliases Gen: | AGT; PH1; SPT; AGT1; SPAT; TLH6; AGXT1; AGXT |
Gen ID (NCBI): | 189 |
OMIM Gen ID: | 604285 |
Chromosomale locatie: | 2q37.3 |
Genetische aandoening / Analyse: | Hyperoxalurie, primaire, type 1 |
OMIM aandoening ID: | 259900 |
Overerving: | AR |
Aliases aandoening: | HYPEROXALURIA, PRIMARY, TYPE I; HP1 OXALOSIS I GLYCOLIC ACIDURIA ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY HEPATIC AGT DEFICIENCY SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY |