PT  - JOURNAL ARTICLE
AU  - G Lundin
AU  - J Hashemi
AU  - Y Floderus
AU  - S Thunell
AU  - E Sagen
AU  - A Laegreid
AU  - W Wassif
AU  - T Peters
AU  - M Anvret
TI  - Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
AID  - 10.1136/jmg.32.12.979
DP  - 1995 Dec 01
TA  - Journal of Medical Genetics
PG  - 979--981
VI  - 32
IP  - 12
4099  - http://jmg.bmj.com/content/32/12/979.short
4100  - http://jmg.bmj.com/content/32/12/979.full
SO  - J Med Genet1995 Dec 01; 32
AB  - 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).