Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian 'foreign protestant' population with acute intermittent porphyria: A founder effect

Clinical Biochemistry

Volumn 30, Issue 8, 1997, Pages 607-612

  Greene Davis, Sheena T ^a   Neumann, Paul E ^a   Mann, O Elizabeth ^a   Moss, Michael A ^a   Schreiber, William E ^b   Welch, J Philip ^a   Langley, G Ross ^a   Sangalang, Vergilio E ^a   Dempsey, Gale I ^a   Nassar, Bassam A ^a,c  

^a DALHOUSIE UNIVERSITY   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c QUEEN ELIZABETH II HEALTH SCIENCES CENTRE   (Canada)

Author keywords

Acute intermittent porphyria; Founder effect; Mutation; Porphobilinogen deaminase

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANADA; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; FOUNDER EFFECT; GENE MUTATION; HUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031407991     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(97)00114-8     Document Type: Article

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