Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

Author:

Lundin G,Hashemi J,Floderus Y,Thunell S,Sagen E,Laegreid A,Wassif W,Peters T,Anvret M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles;Lundin, G.; Wedell, A.; Thunell, S.;Hum Genet,1994

2. Detection of a high mutation frequency in exon 12 ofthe porphobilinogen deaminase gene in patients with acute intermittent porphyria;Mgone, C.S.; Lanyon, W.G.; Moore, M.R.;Hum Genet,1993

3. Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria;Gu, X.-F.; de Rooij, F.; de Baar, E.;Hum Mol Genet,1993

4. Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping;Daimon, M.; Yamatani, K.; Igarashi, M.;Hum Genet,1993

5. Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase;Llewellyn, D.H.; Whatley, S.; Elder, G.H.;Hum Mol Genet,1993

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