Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: First study in patients of Slavic origin

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 57, Issue 3, 1997, Pages 217-224

  Rosipal, R ^a   Puy, H ^b   Lamoril, J ^b   Martasek, P ^a   Nordmann, Y ^b   Deybach, J C ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b HÔPITAL LOUIS MOURIER   (France)

Author keywords

Denaturing gradient gel electrophoresis; porphobilinogen deaminase; Porphyria

Indexed keywords

DEAMINASE; PORPHOBILINOGEN;

ACUTE INTERMITTENT PORPHYRIA; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; DENATURATION; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PRIORITY JOURNAL; SLOVAKIA;

EID: 0030871340     PISSN: 00365513     EISSN: None     Source Type: Journal    
DOI: 10.3109/00365519709060030     Document Type: Article

References (21)

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