Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria

Molecular Genetics and Metabolism

Volumn 91, Issue 1, 2007, Pages 23-29

  Peretz, Hava ^a,b   Naamati, Meirav Shtauber ^a,b   Levartovsky, David ^a   Lagziel, Ayala ^a   Shani, Esther ^b   Horn, Ivona ^c   Shalev, Hanna ^d   Landau, Daniel ^d  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c WESTERN GALILEE HOSPITAL   (Israel)

^d BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Allopurinol loading test; Bedouin Arab patient; C terminal domain of HMCS; Classical xanthinuria type II; Homozygosity mapping; Jewish patient; Muscle pain; XDH and AO deficiency

Indexed keywords

ALLOPURINOL; ARGININE; CATALASE; CYSTEINE; HUMAN MOLYBDENUM COFACTOR SULFURASE; MOLYBDENUM; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HYPOURICEMIA; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; XANTHINURIA;

ALDEHYDE OXIDASE; ALLOPURINOL; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; BASE SEQUENCE; COENZYMES; CYSTEINE; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; METALLOPROTEINS; MUTATION; PEDIGREE; PHYLOGENY; PROTEIN STRUCTURE, TERTIARY; PTERIDINES; SEQUENCE ALIGNMENT; SULFURTRANSFERASES; XANTHINE DEHYDROGENASE; XANTHINES;

EUKARYOTA; PROKARYOTA;

EID: 34047273628     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.02.005     Document Type: Article

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