Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II

Metabolism: Clinical and Experimental

Volumn 52, Issue 11, 2003, Pages 1501-1504

  Yamamoto, Tetsuya ^a   Moriwaki, Yuji ^a   Takahashi, Sumio ^a   Tsutsumi, Zenta ^a   Tuneyoshi, Ka ^a   Matsui, Kiyoshi ^a   Cheng, Jidong ^a   Hada, Toshikazu ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALDEHYDE OXIDASE; ALLOPURINOL; COMPLEMENTARY DNA; CYTOSINE; ENZYME; GUANINE; MOLYBDENUM COFACTOR SULFERASE; MOLYBDENUM COMPLEX; PROLINE; PURINE DERIVATIVE; UNCLASSIFIED DRUG; URIC ACID; XANTHINE DEHYDROGENASE; XANTHINE OXIDASE;

ADULT; ARTICLE; CASE REPORT; CODON; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; DNA SEQUENCE; DRUG METABOLISM; DUODENUM MUCOSA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENOME; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOURICEMIA; IMMUNOBLOTTING; LABORATORY TEST; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATIENT REFERRAL; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN URINE LEVEL; SEQUENCE ANALYSIS; URIC ACID URINE LEVEL; XANTHINURIA;

EID: 0345375261     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0026-0495(03)00272-5     Document Type: Article

References (16)

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