Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

Human genetics

Volumn 122, Issue 3-4, 2007, Pages 417-

  Ausenda, S ^a   Di Pierro, E ^a   Brancaleoni, V ^a   Besana, V ^a   Cappellini, M D ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVOPROTEIN; MITOCHONDRIAL PROTEIN; PPOX PROTEIN, HUMAN; PROTOPORPHYRINOGEN OXIDASE; UNCLASSIFIED DRUG; PORPHOBILINOGEN DEAMINASE;

AMINO ACID SUBSTITUTION; ARTICLE; CODON; ENZYMOLOGY; GENETICS; HUMAN; MISSENSE MUTATION; PORPHYRIA VARIEGATA; ACUTE INTERMITTENT PORPHYRIA; GENE DELETION;

AMINO ACID SUBSTITUTION; CODON; FLAVOPROTEINS; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PORPHYRIA, VARIEGATE; PROTOPORPHYRINOGEN OXIDASE; HYDROXYMETHYLBILANE SYNTHASE; PORPHYRIA, ACUTE INTERMITTENT; SEQUENCE DELETION;

EID: 41449107317     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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