Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family. Two mutations were identified in Swedish families, one splicing mutation in the first position of intron 3 (Int3 + 1) and one missense mutation in exon 8 (Pro119).
Lundin
G
G
Department of Clinical Genetics/Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
Hashemi
J
J
Floderus
Y
Y
Thunell
S
S
Sagen
E
E
Laegreid
A
A
Wassif
W
W
Peters
T
T
Anvret
M
M
D000208:Acute Disease; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics*; D012326:RNA Splicing
D017931:DNA Primers; D011163:Hydroxymethylbilane Synthase