Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.

BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant disorder that results from the partial deficiency of porphobilinogen deaminase (PBGD) in the heme biosynthetic pathway. Patients with AIP can experience acute attacks consisting of abdominal pain and various neuropsychiatric sym...

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Bibliographic Details
Main Authors: Mustajoki, S., Laine, M., Lahtela, M., Mustajoki, P., Peltonen, L., Kauppinen, R.
Format: Artigo
Language:Inglês
Published: 2000
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1949973/
https://ncbi.nlm.nih.gov/pubmed/11055586
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