Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Ulbrichova
Dana
D
Department of Pediatrics and Center for Applied Genomics, 1st School of Medicine, Charles University, Prague, Czech Republic. dana.u@email.cz
Mamet
Rivka
R
Munter
Gabriel
G
Martasek
Pavel
P
Schoenfeld
Nili
N
D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D016254:Mutagenesis, Insertional; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
D003062:Codon; D011163:Hydroxymethylbilane Synthase