A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.

Human mutation

Volumn 16, Issue 1, 2000, Pages 96-

  Siervi, A D ^a   Parera, V E ^a   Varela, L S ^a   Batlle, A M ^a   Rossetti, M V ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVOPROTEIN; MITOCHONDRIAL PROTEIN; OXIDOREDUCTASE; PORPHYRIN; PPOX PROTEIN, HUMAN; PROTOPORPHYRINOGEN OXIDASE;

ARGENTINA; ARTICLE; DOMINANT GENE; ENZYMOLOGY; GENE EXPRESSION REGULATION; GENETICS; HEPATIC PORPHYRIA; HUMAN; METABOLISM; MUTATION;

ARGENTINA; FLAVOPROTEINS; GENES, DOMINANT; HUMANS; MITOCHONDRIAL PROTEINS; MUTAGENESIS, INSERTIONAL; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PORPHYRIAS, HEPATIC; PORPHYRINS; PROTOPORPHYRINOGEN OXIDASE;

EID: 17044448209     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P     Document Type: Article

References (0)