A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria

Journal of Human Genetics

Volumn 45, Issue 6, 2000, Pages 367-369

  Yu, Sui ^a   Poulos, Victor ^a   Stewart, Peter ^a  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Acute intermittent porphyria; DNA sequencing; DNA testing; Porphobilinogen deaminase; Porphobilinogen deaminase gene; Splicing defect

Indexed keywords

DNA; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; FAMILY STUDY; GENE MUTATION; HUMAN; MALE; POLYMERASE CHAIN REACTION; PORPHYRIA;

EID: 0033634628     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070010     Document Type: Article

References (6)

1. Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene
2. Tissue-specific splicing mutation in acute intermittent porphyria
3. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
4. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
5. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
6. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria