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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Bibliografiske detaljer

Udgivet i:	Proc Natl Acad Sci U S A
Principais autores:	Grandchamp, B, Picat, C, Mignotte, V, Wilson, J H, Te Velde, K, Sandkuyl, L, Roméo, P H, Goossens, M, Nordmann, Y
Format:	Artigo
Sprog:	Inglês
Udgivet:	National Academy of Sciences 1989
Fag:	Research Article
Online adgang:	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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