R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.
Petersen
N E
NE
Dept. of Clin. Biochem., Odense Univ. Hosp., Denmark.
Nissen
H
H
Hansen
T S
TS
Rasmussen
K
K
Brock
A
A
Hørder
M
M
D000328:Adult; D002675:Child, Preschool; D005091:Exons; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
D011163:Hydroxymethylbilane Synthase