Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria

Clinical and Experimental Dermatology

Volumn 24, Issue 4, 1999, Pages 296-301

  Frank, J ^a   McGrath, J A ^b   Poh Fitzpatrick, M B ^a   Hawk, J L M ^b   Christiano, A M ^a,c  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTOPORPHYRINOGEN OXIDASE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CODON; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PORPHYRIA; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; TRANSLATION INITIATION;

ADENOSINE; ADULT; CHROMOSOMES, HUMAN, PAIR 1; CODON, INITIATOR; CYTOSINE; FEMALE; FLAVOPROTEINS; HUMANS; LEUCINE; MALE; METHIONINE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; NUCLEIC ACID HETERODUPLEXES; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POINT MUTATION; PORPHYRIAS, HEPATIC; PORPHYRINS; PROTEIN BIOSYNTHESIS; PROTOPORPHYRINOGEN OXIDASE; RNA, MESSENGER; THREONINE; THYMINE;

EID: 0032811232     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.1999.00484.x     Document Type: Article

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