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Recessive inheritance of erythropoietic protoporphyria with liver failure

✍ Scribed by G. Goerz; K. Bolsen; S. Bunselmeyer; Ny Schürer; X. Schneider-Yin; S. Taketani; B. Schäfer; E.I. Minder


Book ID
118555309
Publisher
The Lancet
Year
1994
Tongue
English
Weight
173 KB
Volume
344
Category
Article
ISSN
0140-6736

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Molecular defects in erythropoietic prot
✍ Xiaoye Schneider-Yin; Beat W. Schäfer; Peter Möhr; Günter Burg; Elisabeth I. Min 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 573 KB

We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or af