Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria

American Journal of Human Genetics

Volumn 68, Issue 5, 2001, Pages 1130-1138

  Lamoril, Jéróme ^a   Puy, Hervé ^a   Whatley, Sharon D ^b   Martin, Caroline ^a   Woolf, Jacqueline R ^b   Da Silva, Vasco ^a   Deybach, Jean Charles ^a   Elder, George H ^b  

^a HÔPITAL LOUIS MOURIER   (France)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRINOGEN; COPROPORPHYRINOGEN OXIDASE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; COPROPORPHYRIA; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HARDEROPORPHYRIA; HEMOLYTIC ANEMIA; HEPATIC PORPHYRIA; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PHYLOGENY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM;

EID: 0035016319     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320118     Document Type: Article

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