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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Rüfenacht, U B, Gouya, L, Schneider-Yin, X, Puy, H, Schäfer, B W, Aquaron, R, Nordmann, Y, Minder, E I, Deybach, J C
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1998
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377149/
https://ncbi.nlm.nih.gov/pubmed/9585598
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