Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria

Advances in Experimental Medicine and Biology

Volumn 486, Issue , 2000, Pages 83-86

  Lagziel, A ^a   Levartovsky, D ^a   Sperling, O ^a   Ichida, K ^a   Peretz, H ^a  

^a TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

XANTHINE;

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATALYSIS; CONFERENCE PAPER; ENZYME DEFECT; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; MARKER GENE; MOLECULAR CLONING; PRIORITY JOURNAL; XANTHINURIA;

GENETIC MARKERS; HOMOZYGOTE; HUMANS; MICROSATELLITE REPEATS; POLYMORPHISM, SINGLE NUCLEOTIDE; XANTHINE DEHYDROGENASE; XANTHINES;

EID: 0034470710     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (12)

1. Hereditary Xanthinuria
2. Two siblings with classical xanthinuria type I: Significance of allopurinol loading test
3. Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): Structural analysis of the protein and chromosomal location of the gene
4. Mapping of the gene for human xanthine dehydrogenase (oxidase) (XDH) to the band p23 of chromosome 2
5. Cloning and expression in vitro of human xanthine dehydrogenase/oxidase
6. Molecular clonong and characterization of the human xanthine dehydrogenase gene (XDH)
7. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria
8. XDH gene mutation, the underlying cause of classical xanthinuria; a second report
9. Xanthinuria: An additional case with demonstration of xanthine oxidase defficiency
10. A simple salting out procedure for extracting DNA from human nucleated cells
11. A comprehensive genetic map of the human genome based on 5,264 microsatellites