A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma

Authors: Méndez, M.¹; Poblete-Gutiérrez, P.²; Morán-Jiménez, M.-J.¹; Rodriguez, M.-E.¹; Garrido-Astray, M.-C.; Fontanellas, A.³; Frank, J.²; deSalamanca, R.E.¹

Source: British Journal of Dermatology, Volume 160, Number 6, June 2009 , pp. 1330-1334(5)

Publisher: Wiley-Blackwell

Keywords: erythropoietic protoporphyria; ferrochelatase; homozygous mutation; palmar keratoderma; porphyria

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1365-2133.2009.09084.x

Affiliations: 1: Research Center, Hospital Universitario 12 de Octubre, Madrid, Spain 2: Department of Dermatology, Maastricht University Center for Molecular Dermatology, Euregional Porphyria Center Maastricht and GROW - School for Oncology and Developmental Biology, University Medical Center Maastricht, P. Debyelaan 25, PO Box 5800, 6202 AZ Maastricht, the Netherlands 3: Gene Therapy and Hepatology Area, Centre for Applied Medical Research, University of Navarra, Spain

Publication date: 2009-06-01

• In this: publication
• By this: publisher
• In this Subject: Dermatology
• By this author: Méndez, M. ;  Poblete-Gutiérrez, P. ;  Morán-Jiménez, M.-J. ;  Rodriguez, M.-E. ;  Garrido-Astray, M.-C. ;  Fontanellas, A. ;  Frank, J. ;  deSalamanca, R.E.

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