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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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Uloženo v:
Vydáno v:J Clin Invest
Hlavní autoři: Delfau, M H, Picat, C, de Rooij, F W, Hamer, K, Bogard, M, Wilson, J H, Deybach, J C, Nordmann, Y, Grandchamp, B
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1990
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296897/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2243128/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114869
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