Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.5.1.61 (
porphobilinogen deaminase
)
637
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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).
...
PMID:Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. 882 29
