Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

HMBS

Porfobilinogeno deaminasi

Porphobilinogen deaminase

Porphobilinogen deaminase, also known as hydroxymethylbilane synthase or uroporphyrinogen I synthase is an enzyme that in humans is encoded by the HMBS gene.