The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 60, Issue 7, 2000, Pages 643-648

  Andersson, C ^a   Floderus, Y ^a   Wikberg, A ^a   Lithner, F ^a  

^a UMEÅ UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Acute intermittent porphyria; Mutation; Penetrance

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADULT; AGED; ARTICLE; CHRONIC DISEASE; CREATININE CLEARANCE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HEME SYNTHESIS; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PENETRANCE; POPULATION RESEARCH; PRIORITY JOURNAL; SWEDEN; TRANSCRIPTION REGULATION;

FEMALE; HETEROZYGOTE DETECTION; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MUTATION; PORPHYRIA, ACUTE INTERMITTENT;

EID: 0034523829     PISSN: 00365513     EISSN: None     Source Type: Journal    
DOI: 10.1080/003655100300054891     Document Type: Article

References (17)

1. Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria
2. Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase
3. Tissue-specific splicing mutation in acute intermittent porphyria
4. The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria
5. Porphobilinogen deaminase and uroporphyrinogen III synthase: Structure, molecular biology, and mechanism
6. Acute intermittent porphyria
7. Comparison of complementary and genomic DNA sequencing for detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: Identification of 25 novel mutations
8. Diagnosis of acute intermittent porphyria in northern Sweden: An evaluation of mutation analysis and biochemical methods
9. Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
10. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria
11. Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
12. The occurrence and determination of delta-aminolevulinic acid and porphobilinogen in urine
13. The 1993 guidelines for the management of mild hypertension: Memorandum from a WHO/ISH meeting
14. The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria
15. Hypertension and renal disease in patients with acute intermittent porphyria
16. The porphyrias