Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation
Author:
Affiliation:
1. Departments of Dermatology, Biochemistry and Molecular Genetics; Hospital Clinic; IDIBAPS; University of Barcelona; Barcelona Spain
2. Department of Medical Biochemistry and Immunology; University Hospital of Wales; Cardiff U.K.
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.14675/fullpdf
Reference14 articles.
1. Congenital erythropoietic porphyria;Fritsch;J Am Acad Dermatol,1997
2. Congenital erythropoietic porphyria: advances in pathogenesis and treatment;Desnick;Br J Haematol,2002
3. Molecular genetics of congenital erythropoietic porphyria;Desnick;Semin Liver Dis,1998
4. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases;Katugampola;Br J Dermatol,2012
5. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria;Phillips;Blood,2007
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