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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書誌詳細
主要な著者: Rüfenacht, U B, Gouya, L, Schneider-Yin, X, Puy, H, Schäfer, B W, Aquaron, R, Nordmann, Y, Minder, E I, Deybach, J C
フォーマット: Artigo
言語:Inglês
出版事項: 1998
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377149/
https://ncbi.nlm.nih.gov/pubmed/9585598
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