Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias

Human Genetics

Volumn 114, Issue 3, 2004, Pages 256-262

  Gouya, Laurent ^a   Puy, Hervé ^b   Robreau, Anne Marie ^a   Lyoumi, Said ^a   Lamoril, Jérome ^a   Da Silva, Vasco ^a   Grandchamp, Bernard ^a   Deybach, Jean Charles ^a  

^a INSERM   (France)

^b Faculte de Medecine de Paris Ouest   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRINOGEN OXIDASE; FERROCHELATASE; HYDROXY METHYL BILANE SYNTHASE; MESSENGER RNA; OXIDOREDUCTASE; PORPHOBILINOGEN DEAMINASE; PROTOPORPHYRINOGEN OXIDASE; RNA; UNCLASSIFIED DRUG;

ACUTE DISEASE; ACUTE INTERMITTENT PORPHYRIA; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE CONTROL STUDY; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; COPROPORPHYRIA; DOMINANT GENE; ERYTHROPOIETIC PROTOPORPHYRIA; GENE EXPRESSION; GENE FREQUENCY; GENETICS; HEPATIC PORPHYRIA; HUMAN; MAJOR CLINICAL STUDY; MODULATION; MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPIC VARIATION; PORPHYRIA; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ACUTE DISEASE; ALLELES; CASE-CONTROL STUDIES; COHORT STUDIES; COPROPORPHYRINOGEN OXIDASE; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FERROCHELATASE; FLAVOPROTEINS; GENES, DOMINANT; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MITOCHONDRIAL PROTEINS; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PORPHYRIA, HEPATOERYTHROPOIETIC; PORPHYRIAS, HEPATIC; PROTOPORPHYRINOGEN OXIDASE; REPRODUCIBILITY OF RESULTS; RNA, MESSENGER;

EID: 1142263152     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-1059-5     Document Type: Article

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