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...

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Bibliographic Details
Main Authors: Lundin, G, Hashemi, J, Floderus, Y, Thunell, S, Sagen, E, Laegreid, A, Wassif, W, Peters, T, Anvret, M
Format: Artigo
Language:Inglês
Published: 1995
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051782/
https://ncbi.nlm.nih.gov/pubmed/8825929
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