Systematic analysis of molecular defects in the ferrochelatase gene from patients with Erythropoietic protoporphyria

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1341-1352

  Rufenacht U B ^a   Gouya, L ^b   Schneider Yin, X ^a   Puy, H ^b   Schafer B W ^a   Aquaron, R ^c   Nordmann, Y ^b   Minder, E I ^a   Deybach, J C ^b  

^a Universitats Kinderklinik   (Switzerland)

^b HÔPITAL LOUIS MOURIER   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERROCHELATASE; PROTOPORPHYRIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LIVER FAILURE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; PHOTODERMATOSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS;

EID: 0031779289     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301870     Document Type: Article

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