Cargando...

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Erythropoietic protoporphyria (EPP; MIM 177000) is an inherited disorder caused by partial deficiency of ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway. In EPP patients, the FECH deficiency causes accumulation of free protoporphyrin in the erythron, associated with a painful...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Rüfenacht, U B, Gouya, L, Schneider-Yin, X, Puy, H, Schäfer, B W, Aquaron, R, Nordmann, Y, Minder, E I, Deybach, J C
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377149/
https://ncbi.nlm.nih.gov/pubmed/9585598
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!