Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type 1 xanthinuria

Journal of Clinical Investigation

Volumn 99, Issue 10, 1997, Pages 2391-2397

  Ichida, Kimiyoshi ^a   Amaya, Yoshihiro ^b   Kamatani, Naoyuki ^c   Nishino, Takeshi ^d   Hosoya, Tatsuo ^a   Sakai, Osamu ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

aldehyde oxidase; hypouricemia; molybdenum cofactor; sulfite oxidase; urolithiasis

Indexed keywords

ARGININE; COMPLEMENTARY DNA; CYTOSINE; MESSENGER RNA; MOLYBDENUM; THYMINE; XANTHINE DEHYDROGENASE;

ADULT; AGED; ARTICLE; CASE REPORT; CONTROLLED STUDY; DUODENUM MUCOSA; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SIBLING; STOP CODON; UROLITHIASIS; XANTHINURIA;

EID: 0030928216     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119421     Document Type: Article

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