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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Pubblicato in:	J Clin Invest
Autori principali:	Delfau, M H, Picat, C, de Rooij, F W, Hamer, K, Bogard, M, Wilson, J H, Deybach, J C, Nordmann, Y, Grandchamp, B
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1990
Soggetti:	Research Article
Accesso online:	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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