Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

dc.contributor.author	Mgone, Charles S.
dc.date.accessioned	2020-07-03T09:48:24Z
dc.date.available	2020-07-03T09:48:24Z
dc.date.issued	1993
dc.description.abstract	Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the result of single base substitutions and one being caused by dinucleotide deletion. All of these mutations are located in domain 3 of the PBG-D molecule, with the single base substitutions affecting the hydrophobic interfaces between domains 1 and 3. The dinucleotide deletion results in a frame-shift producing a premature stop codon.	en_US
dc.identifier.citation	Mgone, C.S., Lanyon, W.G., Moore, M.R., Louie, G.V. and Connor, J.M., 1993. Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. Human genetics, 92(6), pp.619-622.	en_US
dc.identifier.other	https://doi.org/10.1007/BF00420949
dc.identifier.uri	http://hdl.handle.net/123456789/438
dc.language.iso	en	en_US
dc.publisher	Human genetics	en_US
dc.subject	Codon	en_US
dc.subject	Metabolic Disease	en_US
dc.subject	cDNA Sequencing	en_US
dc.title	Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria	en_US
dc.type	Article	en_US