TY - JOUR T1 - Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. JF - Journal of Medical Genetics JO - J Med Genet SP - 979 LP - 981 DO - 10.1136/jmg.32.12.979 VL - 32 IS - 12 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 Y1 - 1995/12/01 UR - http://jmg.bmj.com/content/32/12/979.abstract N2 - 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). ER -