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Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. 1995
G Lundin, and
J Hashemi, and
Y Floderus, and
S Thunell, and
E Sagen, and
A Laegreid, and
W Wassif, and
T Peters, and
M Anvret
Department of Clinical Genetics/Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
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).
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