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

We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon...

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Detalhes bibliográficos
Main Authors: Lundin, G, Hashemi, J, Floderus, Y, Thunell, S, Sagen, E, Laegreid, A, Wassif, W, Peters, T, Anvret, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051782/
https://ncbi.nlm.nih.gov/pubmed/8825929
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