Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.

Human mutation

Volumn 16, Issue 6, 2000, Pages 532-

  De Siervi, A ^a   Parera, V E ^a   del C Batlle, A M ^a   Rossetti, M V ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVOPROTEIN; HISTIDINE; LEUCINE; MITOCHONDRIAL PROTEIN; OXIDOREDUCTASE; PPOX PROTEIN, HUMAN; PROLINE; PROTOPORPHYRINOGEN OXIDASE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; ENZYMOLOGY; GENETICS; HEPATIC PORPHYRIA; HUMAN; MISSENSE MUTATION;

AMINO ACID SUBSTITUTION; FLAVOPROTEINS; HISTIDINE; HUMANS; LEUCINE; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PORPHYRIAS, HEPATIC; PROLINE; PROTOPORPHYRINOGEN OXIDASE; VALINE;

EID: 0034540878     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200012)16:6<532::aid-humu18>3.0.co;2-s     Document Type: Article

References (0)