Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

Human Molecular Genetics

Volumn 14, Issue 20, 2005, Pages 3089-3098

  Schmitt, Caroline ^a,b   Gouya, Laurent ^a   Malonova, Eva ^a,c   Lamoril, Jérôme ^a   Camadro, Jean Michel ^d   Flamme, Magali ^e   Rose, Christian ^f   Lyoumi, Said ^a   Da Silva, Vasco ^a   Boileau, Catherine ^b   Grandchamp, Bernard ^a   Beaumont, Carole ^a   Deybach, Jean Charles ^a   Puy, Hervé ^a,b  

^a INSERM   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c CHARLES UNIVERSITY   (Czech Republic)

^d SORBONNE UNIVERSITÉ   (France)

^e CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^f LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; COPROPORPHYRINOGEN OXIDASE; MUTANT PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CLUSTER ANALYSIS; CRYSTALLOGRAPHY; DISEASE ASSOCIATION; DYSERYTHROPOIESIS; ERYTHROPOIETIC HARDEROPORPHYRIA; FEMALE; GENE EXPRESSION REGULATION; GENE MAPPING; GENE MUTATION; GENETIC PREDISPOSITION; GENOME ANALYSIS; HEMATOLOGIC DISEASE; HEPATIC HEREDITARY COPROPORPHYRIA; HEPATIC PORPHYRIA; HUMAN; IRON OVERLOAD; MALE; MISSENSE MUTATION; NULL ALLELE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SECONDARY STRUCTURE; SKIN DEFECT;

AMINO ACID SEQUENCE; COPROPORPHYRIA, HEREDITARY; COPROPORPHYRINOGEN OXIDASE; EXONS; GENE EXPRESSION; HEME; HUMANS; IRON OVERLOAD; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PORPHYRIAS, HEPATIC; PROTEIN STRUCTURE, SECONDARY; SEQUENCE HOMOLOGY;

EID: 27544443960     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi342     Document Type: Article

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