Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography

Clinica Chimica Acta

Volumn 305, Issue 1-2, 2001, Pages 197-200

  Lam, Ching Wan ^a   Hui, Ka Ning ^b   Poon, Priscilla Miu Kuen ^a   Luk, Nai Ming ^b   Yuen, Yuet Ping ^c   Tong, Sui Fan ^a   Lai, Chi Kong ^c   Chan, Yan Wo ^c   Lo, Kuen Kong ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b DEPARTMENT OF HEALTH   (Hong Kong)

^c PRINCESS MARGARET HOSPITAL   (Hong Kong)

Author keywords

Denaturing high performance liquid chromatography; Mutation detection; PPOX gene; Variegate porphyria

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE;

ADULT; ARTICLE; BULLOUS SKIN DISEASE; CASE REPORT; CHINESE; CHROMOSOME 1Q; CLINICAL FEATURE; DEVICE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA DENATURATION; EXON; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; NUCLEOTIDE SEQUENCE; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOM;

ADULT; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; EXONS; FEMALE; FLAVOPROTEINS; HUMANS; INTRONS; MITOCHONDRIAL PROTEINS; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PROTEIN DENATURATION; PROTOPORPHYRINOGEN OXIDASE; RNA SPLICING;

EID: 0035098897     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(01)00382-5     Document Type: Article

References (12)

1. Diagnosis and management of porphyria
2. A plasma porphyrin fluorescence marker for variegate porphyria
3. Laboratory investigation of the porphyrias
4. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli
5. The human protoporphyrinogen oxidase gene (PPOX): Organization and location to chromosome 1
6. The human gene mutation database
7. Variegate porphyria in Western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
8. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
9. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
10. High-performance thin-layer chromatography of free porphyrins for diagnosis of porphyria
11. Simultaneous fluorescence detection of fecal urobilins and porphyrins by reversed-phase high-performance thin-layer chromatography
12. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria