Hepatoerythropoietic porphyria: A missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern

British Journal of Dermatology

Volumn 151, Issue 4, 2004, Pages 920-923

  Armstrong, D K B ^a   Sharpe, P C ^a   Chambers, C R ^a   Whatley, S D ^b   Roberts, A G ^b   Elder, G H ^b  

^a CRAIGAVON AREA HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Hepatoerythropoietic porphyria; Mutation; Porphyrin excretion; Uroporphyrinogen decarboxylase

Indexed keywords

GENE PRODUCT; PENTACARBOXYLIC PORPHYRIN; PORPHYRIN; PORPHYRIN DERIVATIVE; UNCLASSIFIED DRUG; UROPORPHYRINOGEN DECARBOXYLASE;

ADULT; ARTICLE; CASE REPORT; CHILDHOOD DISEASE; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE; GENODERMATOSIS; GENOTYPE; HEPATOERYTHROPOIETIC PORPHYRIA; HUMAN; MALE; MISSENSE MUTATION; ONSET AGE; PORPHYRIA CUTANEA TARDA; PORPHYRIN METABOLISM; PRIORITY JOURNAL; SUN EXPOSURE; UROD GENE;

ADULT; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PORPHYRIA, HEPATOERYTHROPOIETIC; PORPHYRINS; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 8344277468     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2004.06101.x     Document Type: Article

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