Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC

Clinical Chemistry

Volumn 47, Issue 2, 2001, Pages 343-346

  Lam, C W ^a   Poon, P M K ^a   Tong, S F ^a   Lo, A W I ^a   Lai, C K ^a   Choi, K L ^a   Tiu, S C ^a   Chan, Y W ^a   Shek, C C ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADULT; ANALYTIC METHOD; ARTICLE; CASE REPORT; CHROMOSOME 11Q; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE COURSE; EXON; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTERMETHOD COMPARISON; POLYMERASE CHAIN REACTION; STRUCTURE ANALYSIS; VALIDATION PROCESS;

EID: 0035134704     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.2.343     Document Type: Article

References (27)

1. The porphyrias
2. Acute intermittent porphyria: Diagnostic conundrums
3. Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen-synthase activity
4. Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene
5. The human gene mutation database
6. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria
7. Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria
8. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyda: Identification of 25 novel mutations
9. Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria
10. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria
11. Detection Of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis
12. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
13. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
14. Superiority of denaturing high performance liquid chromatography Over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2
15. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
16. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
17. Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
18. Analysis of sequence alterations in a defined DNA region: Comparison of temperature-modulated heteroduplex analysis and denaturing gradient gel electrophoresis
19. Simultaneous fluorescence detection of fecal urobilins and porphyrins by reversed-phase high-performance thin-layer chromatography
20. High-performance thin-layer chromatography of free porphyrins for diagnosis of porphyria
21. Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
22. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
23. Novel single nucleotide polymorphism (9678G→A) for linkage analysis of acute intermittent porphyria
24. Systemic search for polymorphisms in the human genome using denaturing high-performance liquid chromatography (DHPLC)
25. Allelic discrimination by denaturing high-performance liquid chromatography
26. A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers
27. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection