New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

Molecular and Cellular Probes

Volumn 13, Issue 6, 1999, Pages 443-447

  Gross U ^a   Puy, H ^b   Doss, M ^a   Robreau, A M ^b   Nordmann, Y ^b   Doss, M O ^a   Deybach, J C ^b  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b HÔPITAL LOUIS MOURIER   (France)

Author keywords

Acute intermittent porphyria; Hydroxymethylbilane synthase; Molecular heterogeneity; Mutations; Porphobilinogen deaminase

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GERMANY; HUMAN; INTRON; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; STOP CODON;

EID: 0033389833     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1999.0276     Document Type: Article

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