Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

To investigate the molecular pathology in acute intermittent porphyria (AIP), the nature of the defective porphobilinogen (PBG)-deaminase was determined in erythrocyte lysates from 165 AIP heterozygotes from 92 unrelated families representing 20 different ethnic or demographic groups. Immunologic an...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Desnick, R J, Ostasiewicz, L T, Tishler, P A, Mustajoki, P
Formato: Artigo
Lenguaje:Inglês
Publicado: 1985
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC423920/
https://ncbi.nlm.nih.gov/pubmed/3897290
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares