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- Title
Diagnosis of latent acute intermittent porphyria by genetic analysis.
- Authors
De Siervi, Adriana; Varela, Laura S.; Parera, Victoria E.; del C. Batlle, Alcira M.; Rossetti, Maria V.
- Abstract
The article focuses on porphyria, a group of inherited enzyme disorders of the haem biosynthetic pathway, and discusses the study conducted on patients with acute intermittent porphyria (AIP) which is caused by a partial defienciency of porphobilinogen deaminase (PBG-D). The study was undertaken to find out the mutations responsible for AIP at the DNA level.
- Subjects
PORPHYRIA; PIGMENTATION disorders; SKIN diseases; GENETIC mutation; PORPHYRINURIA; DEFICIENCY diseases
- Publication
Annals of Clinical Biochemistry, 2001, Vol 38, Issue 2, p149
- ISSN
0004-5632
- Publication type
Article
- DOI
10.1258/0004563011900344