Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of swiss patients with acute intermittent porphyria

Human Heredity

Volumn 50, Issue 4, 2000, Pages 247-250

  Schneider Yin, Xiaoye ^a   Bogard, Catherine ^b   Rüfenacht, Ursula B ^a   Puy, Hervé ^b   Nordmann, Yves ^b   Minder, Elisabeth I ^a   Deybach, Jean Charles ^b  

^a TRIEMLI HOSPITAL   (Switzerland)

^b HÔPITAL LOUIS MOURIER   (France)

Author keywords

Acute intermittent porphyria; Porphobilinogen deaminase; Prevalent mutation

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; ENZYME ACTIVITY; EXON; FOUNDER EFFECT; HUMAN; HUMAN CELL; INTRON; MOLECULAR GENETICS; NONSENSE MUTATION; SWITZERLAND;

EID: 0034009598     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022924     Document Type: Article

References (20)

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