A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

We have determined the mutation in a patient with acute intermittent porphyria. The mRNA coding for porphobilinogen deaminase was reverse transcribed then the cDNA was enzymatically amplified in vitro. Upon sequencing of a polymerase chain reaction product of abnormal size we found that this fragmen...

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Bibliografiske detaljer

Udgivet i:	Nucleic Acids Res
Principais autores:	Grandchamp, B, Picat, C, de Rooij, F, Beaumont, C, Wilson, P, Deybach, J C, Nordmann, Y
Format:	Artigo
Sprog:	Inglês
Udgivet:	Oxford University Press 1989
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC318356/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2789372/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/17.16.6637
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