Homozygous variegate porphyria: Identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband

Journal of Investigative Dermatology

Volumn 110, Issue 4, 1998, Pages 452-455

  Frank, J ^a   McGrath, J ^a   Lam, H ^a   Graham, R M ^a   Hawk, J L M ^a   Christiano, A M ^a  

^a The New York Presbyterian Hospital   (United States)

Author keywords

Genodermatosis; Photosensitivity; Porphyria; Porphyrin heme biosynthetic pathway

Indexed keywords

HEME; PORPHYRIN; PROTOPORPHYRINOGEN OXIDASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; FAMILY STUDY; FEMALE; GENE MUTATION; GENODERMATOSIS; HUMAN; MISSENSE MUTATION; PHOTOSENSITIVITY; POLYMERASE CHAIN REACTION; PORPHYRIA; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; SKIN DISEASE;

EID: 0031944103     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00148.x     Document Type: Article

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