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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Detalhes bibliográficos
Main Authors: Grandchamp, B, Picat, C, Mignotte, V, Wilson, J H, Te Velde, K, Sandkuyl, L, Roméo, P H, Goossens, M, Nordmann, Y
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC286533/
https://ncbi.nlm.nih.gov/pubmed/2563167
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