Molecular mechanisms of dominant expression in porphyria

Journal of Inherited Metabolic Disease

Volumn 28, Issue 3, 2005, Pages 277-286

  Badminton, M N ^a   Elder, G H ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ALCOHOL; BETA CAROTENE; COPROPORPHYRINOGEN OXIDASE; ESTROGEN; FERROCHELATASE; HEME; IRON; LIVER ENZYME; PORPHOBILINOGEN DEAMINASE; PORPHOBILINOGEN SYNTHASE; PROTOPORPHYRINOGEN OXIDASE; SUNSCREEN; UROPORPHYRINOGEN DECARBOXYLASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CORRELATION FUNCTION; DIAGNOSTIC ACCURACY; DOMINANT GENE; ENVIRONMENTAL FACTOR; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INHIBITION; ERYTHROPOIETIC PROTOPORPHYRIA; FAMILIAL DISEASE; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HEME SYNTHESIS; HEREDITY; HUMAN; METABOLIC DISORDER; MOLECULAR GENETICS; MOLECULAR MECHANICS; NEUROLOGIC DISEASE; NULL ALLELE; PATHOGENESIS; PENETRANCE; PORPHYRIA; PORPHYRIA CUTANEA TARDA; PORPHYRIA VARIEGATA; PRECURSOR; SKIN MANIFESTATION; SYMPTOMATOLOGY; VISCERA;

GENES, DOMINANT; HUMANS; PORPHYRIA CUTANEA TARDA; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRIA, ERYTHROPOIETIC; PORPHYRIAS;

EID: 19444372706     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-8050-3     Document Type: Article

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