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Erythropoietic protoporphyria with eye complications

✍ Scribed by Hiromi TSUBOI; Kohzoh YONEMOTO; Kensei KATSUOKA


Book ID
108576350
Publisher
John Wiley and Sons
Year
2007
Tongue
French
Weight
128 KB
Volume
34
Category
Article
ISSN
0385-2407

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Molecular defects in erythropoietic prot
✍ Xiaoye Schneider-Yin; Beat W. SchΓ€fer; Peter MΓΆhr; GΓΌnter Burg; Elisabeth I. Min πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 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