Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

Human Genetics

Volumn 107, Issue 3, 2000, Pages 243-248

  Whatley, Sharon D ^a   Roberts, Andrew G ^a   Llewellyn, David H ^a   Bennett, Christopher P ^b   Garrett, Christine ^c   Elder, George H ^a  

^a LLANDOUGH HOSPITAL   (United Kingdom)

^b Department of Clinical Genetics ^*  (United Kingdom)

^c EALING HOSPITAL NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN DEAMINASE; TRANSCRIPTION FACTOR;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; ERYTHROCYTE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; BASE SEQUENCE; BINDING SITES; CHILD, PRESCHOOL; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMAN; HYDROXYMETHYLBILANE SYNTHASE; MALE; MOLECULAR SEQUENCE DATA; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRIA, ERYTHROPOIETIC; PROMOTER REGIONS (GENETICS); PROTEIN ISOFORMS; TRANSCRIPTION FACTOR TFIIB; TRANSCRIPTION FACTORS;

EID: 0033772228     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000356     Document Type: Article

References (36)

1. The mouse porphobilinogen deaminase gene
2. Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia
3. DNA binding site selection by RNA polymerase II TAFs: A TAF(II)250-TAF(II)150 complex recognises the initiator
4. Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene
5. Alternative transcription and splicing of the human porphobilinogen deaminase gene result in tissue-specific or in housekeeping expression
6. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation
7. The acute porphyrias
8. Haemophilia B (sixth edition): A database of point mutations and short additions and deletions
9. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
10. Tissue specific splicing mutation in acute intermittent porphyria
11. Heterogeneity of acute intermittent porphyria: A subtype with normal erythrocyte porphobilinogen deaminase activity in Germany
12. Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria
13. A perfect message: RNA surveillance and nonsense-mediated decay
14. The porphyrias
15. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
16. The human gene mutation database
17. New core promoter element in RNA polymerase II-dependent transcription: Sequence-specific DNA binding by transcription factor IIB
18. Rapid procedure for fecal porphyrin assay
19. Characterization and regulation of the nonerythroid porphobilinogen deaminase promoter
20. Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
21. A red cell enzyme method for the diagnosis of acute intermittent porphyria
22. The occurrence and determination of δ-aminolevulinc acid and porphobilinogen in urine
23. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria
24. Genetic heterogeneity in acute intermittent porphyria: Characterization and frequency of porphobilinogen deaminase mutations in Finland
25. Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
26. Assignment of human PBG deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies
27. Acute intermittent porphyria: Prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
28. Core promoters and transcriptional control
29. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
30. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria
31. Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency
32. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: Identification of 25 novel mutations
33. AIP in the Netherlands
34. Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
35. Molecular basis of acute intermittent porphyria
36. Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene