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(40) Erythropoietic protoporphyria with hepatic involvement

✍ Scribed by Drs J.N.W.N. Barker; R. Cerio; D. France; D.M. MacDonald


Book ID
108661275
Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
583 KB
Volume
119
Category
Article
ISSN
0007-0963

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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