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Tissue-specific splicing mutation in acute intermittent porphyria.

An inherited deficiency of porphobilinogen deaminase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in humans is responsible for the autosomal dominant disease acute intermittent porphyria. Different classes of mutations have been described at the protein level suggesting that this is a...

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Publicado en:Proc Natl Acad Sci U S A
Autores principales: Grandchamp, B, Picat, C, Mignotte, V, Wilson, J H, Te Velde, K, Sandkuyl, L, Roméo, P H, Goossens, M, Nordmann, Y
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 1989
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC286533/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2563167/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.2.661
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