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

British Journal of Dermatology

Volumn 160, Issue 6, 2009, Pages 1330-1334

  Mendez M ^a   Poblete Gutierrez P ^b   Moran Jimenez M J ^a   Rodriguez, M E ^a   Garrido Astray, M C ^a,c   Fontanellas, A ^d   Frank, J ^b   De Salamanca, R E ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSIDAD EUROPEA DE MADRID   (Spain)

^d UNIVERSITY OF NAVARRA   (Spain)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase; Homozygous mutation; Palmar keratoderma; Porphyria

Indexed keywords

EDETIC ACID; FERROCHELATASE; PROTOPORPHYRIN;

ADULT; ANAMNESIS; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE ASSOCIATION; DNA SEQUENCE; ENZYME ACTIVITY; GENE AMPLIFICATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MALE; PALMOPLANTAR KERATODERMA; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SITE DIRECTED MUTAGENESIS;

CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FERROCHELATASE; HOMOZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTOPORPHYRIA, ERYTHROPOIETIC;

EID: 66149087344     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09084.x     Document Type: Article

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