Homozygous variegate porphyria: A compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene

British Journal of Dermatology

Volumn 144, Issue 4, 2001, Pages 866-869

  Palmer, R A ^a   Elder, G H ^b   Barrett, D F ^a   Keohane, S G ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Homozygous variegate porphyria; Protoporphyrinogen oxidase; Variegate porphyria

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; ONSET AGE; PHOTOSENSITIVITY; PORPHYRIA VARIEGATA; PRIORITY JOURNAL;

ADULT; FACIAL DERMATOSES; FEMALE; FLAVOPROTEINS; HETEROZYGOTE; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; PORPHYRIAS, HEPATIC; PROTOPORPHYRINOGEN OXIDASE;

EID: 0035030036     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2001.04147.x     Document Type: Article

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