Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Two mutations of the porphobilinogen (PBG) deaminase gene resulting in cross-reacting immunological material (CRIM) positive forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA and cloning of the amplified products in a bacterial expression vector. Both...

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Bibliographic Details
Main Authors: Delfau, M H, Picat, C, de Rooij, F W, Hamer, K, Bogard, M, Wilson, J H, Deybach, J C, Nordmann, Y, Grandchamp, B
Format: Artigo
Language:Inglês
Published: 1990
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC296897/
https://ncbi.nlm.nih.gov/pubmed/2243128
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