Código QR

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...

Descrición completa

Gardado en:
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 1989
Assuntos:
Research Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares