Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene

Clinical Genetics

Volumn 62, Issue 4, 2002, Pages 288-297

  Floderus, Ylva ^a   Shoolingin Jordan, P M ^b   Harper, P ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Acute intermittent porphyria; Mutation; Porphobilinogen deaminase; Structure function relationships

Indexed keywords

ALCOHOL; HEME; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE EXACERBATION; ENZYME STRUCTURE; EXON; FAMILY STUDY; FOUNDER EFFECT; FUNCTIONAL ASSESSMENT; GENE LOCATION; GENE MUTATION; GENETIC COUNSELING; HEME SYNTHESIS; HUMAN; MAJOR CLINICAL STUDY; MENTAL DISEASE; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROLOGIC DISEASE; NONSENSE MUTATION; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; SHORT SURVEY; STRESS; SWEDEN;

CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MUTATION, MISSENSE; PORPHYRIA, ACUTE INTERMITTENT; SWEDEN;

EID: 0036821823     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620406.x     Document Type: Short Survey

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