Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

Human Mutation

Volumn 13, Issue 1, 1999, Pages 44-53

  Rosipal, R ^a   Lamoril, J ^b   Puy, H ^b   Da Silva, V ^b   Gouya, L ^b   De Rooij, F W M ^c   Te Velde, K ^d   Nordmann, Y ^b   Martasek P ^a   Deybach, J C ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b HÔPITAL LOUIS MOURIER   (France)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Department of Internal Medicine   (Netherlands)

Author keywords

Coproporphyrinogen oxidase gene; DGGE; Hereditary coproporphyria; Mutation

Indexed keywords

AMINOLEVULINIC ACID; COPROPORPHYRIN; COPROPORPHYRINOGEN OXIDASE; DNA; HEME ARGINATE; PORPHOBILINOGEN; RNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; COPROPORPHYRIA; CZECH REPUBLIC; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; FRANCE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; NETHERLANDS; PORPHYRIA; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

ADULT; COPROPORPHYRINOGEN OXIDASE; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; POINT MUTATION; POLYMORPHISM, GENETIC; PORPHYRIAS, HEPATIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

PROKARYOTA;

EID: 0032899348     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q     Document Type: Article

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