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Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Acute intermittent porphyria (AIP) is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen (PBG) deaminase and is characterized by life-threatening neurovisceral attacks, often precipitated by drugs, fasting, cyclical...

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Main Authors: Puy, H, Deybach, J C, Lamoril, J, Robreau, A M, Da Silva, V, Gouya, L, Grandchamp, B, Nordmann, Y
Format: Artigo
Jezik:Inglês
Izdano: 1997
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716106/
https://ncbi.nlm.nih.gov/pubmed/9199558
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