Molecular Characterization of a Ferrochelatase Gene Defect Causing Anomalous RNA Splicing in Erythropoietic Protoporphyria

Author:

Sarkany Robert PE.,Whitcombe David M,Cox Timothy M

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference26 articles.

1. Diminished crythroid ferrochelatase activity in protoporphyria;Bottomley;J Lab Clin Med,1975

2. Erythropoietic protoporphria; a new porphyria syndrome with solar urticaria due to protoporphyrinacmia;Magnus;Lancet,1961

3. The liver in protoporphyria;Bloomer;Hepatohgy,1988

4. Biochemical and fluorescence microscopy screening tests for erythropoietic protoporphyria;Rimington;Lancet,1965

5. Genetic aspects of erythropoietic protoporphyria;Went;Ann Hum Genet,1984

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1. Porphyrias;Clinical Hepatology;2010

2. Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance;Journal of Investigative Dermatology;2009-03

3. Molecular characterization of erythropoietic protoporphyria in South Africa;British Journal of Dermatology;2008-07

4. Protoporphyria;The Porphyrin Handbook;2003

5. Erythropoietic protoporphyria (EPP) at 40. Where are we now?;Photodermatology, Photoimmunology & Photomedicine;2002-06

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