Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria

Journal of Human Genetics

Volumn 47, Issue 8, 2002, Pages 407-412

  Wiman, A ^a   Floderus, Y ^a   Harper, P ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Coproporphyrinogen oxidase; DNA mutational analysis; Heme biosynthesis CPO mutations; Hereditary coproporphyria

Indexed keywords

COPROPORPHYRINOGEN OXIDASE;

ADULT; ALLELE; ARTICLE; AUTOSOMAL DISORDER; CASE REPORT; COPROPORPHYRIA; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; ENZYME DEFICIENCY; GENE MUTATION; HEME SYNTHESIS; HUMAN; SWEDEN;

EID: 0036332926     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200059     Document Type: Article

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