Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.

Human mutation

Volumn 15, Issue 5, 2000, Pages 480-

  Martinez di Montemuros, F ^a   Di Pierro, E ^a   Fargion, S ^a   Biolcati, G ^a   Griso, D ^a   Macri A ^a   Fiorelli, G ^a   Cappellini, M D ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; ITALY; MALE; MIDDLE AGED; MUTATION;

ADULT; ALTERNATIVE SPLICING; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; ITALY; MALE; MIDDLE AGED; MUTATION; PORPHYRIA, ACUTE INTERMITTENT;

MLCS; MLOWN;

EID: 17144454533     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(200005)15:5<480::aid-humu12>3.0.co;2-j     Document Type: Article

References (0)