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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Rüfenacht, U B, Gouya, L, Schneider-Yin, X, Puy, H, Schäfer, B W, Aquaron, R, Nordmann, Y, Minder, E I, Deybach, J C
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377149/
https://ncbi.nlm.nih.gov/pubmed/9585598
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky