Identification of five novel mutations in the porphobilinogen deaminase gene

dc.contributor.author	Mgone, Charles S.
dc.date.accessioned	2020-03-17T13:04:53Z
dc.date.available	2020-03-17T13:04:53Z
dc.date.issued	1994
dc.description.abstract	We have studied the porphobilinogen deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria. This was achieved by reverse transcription and PCR amplification of mRNA followed by asymmetric amplification and direct sequencing. Five novel and two previously described mutations were identified and found to be single base substitutions. Of the five novel mutations, three were missense (R116Q, T2691, G274R) and two were nonsense (Q204 Stop, W283 Stop). Using Escherichla coll PBGD as a model, it is possible to predict and explain the deleterious effects that these mutations might have on the function and structure of the enzyme.	en_US
dc.identifier.citation	S. Mgone, C., Lanyon, W.G., R. Moore, M., Louie, G.V. and Connor, J.M., 1994. Identification of five novel mutations in the porphobilinogen deaminase gene. Human molecular genetics, 3(5), pp.809-811.	en_US
dc.identifier.issn	doi.org/10.1093/hmg/3.5.809
dc.identifier.uri	http://hdl.handle.net/123456789/366
dc.language.iso	en	en_US
dc.publisher	Human molecular genetics	en_US
dc.subject	Five novel mutations	en_US
dc.subject	Porphobilinogen deaminase gene	en_US
dc.title	Identification of five novel mutations in the porphobilinogen deaminase gene	en_US
dc.type	Article	en_US

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