DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography

Molecular Genetics and Metabolism

Volumn 75, Issue 1, 2002, Pages 91-95

  Lam, Ching Wan ^a   Li, Chi Keung ^b   Lai, Chi Kong ^b   Tong, Sui Fan ^a   Chan, Kwok Yin ^b   Ng, Grace Sui Fun ^b   Yuen, Yuet Ping ^b   Cheng, Anna Wai Fun ^b   Chan, Yan Wo ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b PRINCESS MARGARET HOSPITAL   (Hong Kong)

Author keywords

Diagnosis; DNA; Human genome project; Isolated sulfite oxidase deficiency; Mutation; SUOX

Indexed keywords

OLIGONUCLEOTIDE; SULFITE OXIDASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHINESE; CODON; DIAGNOSTIC PROCEDURE; DNA DENATURATION; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC CODE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HUMAN GENOME; INTRON; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SULFITE OXIDASE DEFICIENCY; WILD TYPE;

EID: 0036353260     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3267     Document Type: Article

References (5)

1. Molecular cloning of human liver sulfite oxidase
2. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase
3. Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme
4. Isolated sulfite oxidase deficiency
5. Denaturing high-performance liquid chromatography: A review