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Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT

The molecular pathology of the porphobilinogen (PBG)-deaminase deficiency in heterozygotes for acute intermittent porphyria (AIP) was investigated by means of biochemical and immunologic techniques. The stable enzyme-substrate intermediates (A, B, C, D, and E) of PBG-deaminase were separated by anio...

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Detalhes bibliográficos
Main Authors: Anderson, Peter M., Reddy, Raman M., Anderson, Karl E., Desnick, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: 1981
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC370766/
https://ncbi.nlm.nih.gov/pubmed/7251856
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