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...

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Detaylı Bibliyografya
Asıl Yazarlar: Rüfenacht, U B, Gouya, L, Schneider-Yin, X, Puy, H, Schäfer, B W, Aquaron, R, Nordmann, Y, Minder, E I, Deybach, J C
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1998
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377149/
https://ncbi.nlm.nih.gov/pubmed/9585598
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