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P372 Erythropoietic protoporphyria with liver failure

✍ Scribed by M. Schwab; E. Coghlan; M. Quezel; J. Bruetman


Book ID
117644877
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
140 KB
Volume
14
Category
Article
ISSN
0953-6205

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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