Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population

Biochemical Genetics

Volumn 15, Issue 3-4, 1977, Pages 265-272

  Johnson, L A ^a   Gordon, R B ^a   Emmerson, B T ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

adenine phosphoribosyltransferase assay; adenine phosphoribosyltransferase mutation; gout; normal human population

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE;

DIAGNOSIS; ENZYME DEFICIENCY; ERYTHROCYTE; GOUT; IN VITRO STUDY; METHODOLOGY; MUTANT; MUTATION; NORMAL HUMAN; THEORETICAL STUDY;

ADENINE PHOSPHORIBOSYLTRANSFERASE; ERYTHROCYTES; GENETICS, POPULATION; HUMAN; KINETICS; MUTATION; PENTOSYLTRANSFERASES; SPECTROPHOTOMETRY, ULTRAVIOLET;

EID: 0017397075     PISSN: 00062928     EISSN: 15734927     Source Type: Journal    
DOI: 10.1007/BF00484458     Document Type: Article

References (11)

1. Assay of hypoxanthine-guanine and adenine phosphoribosyltransferases: A simple screening test for the Lesch-Nyhan syndrome and related disorders of purine metabolism
2. Une nouvelle maladie métabolique: Le deficit complet en adenine-phosphoribosyltransferase avec lithiase de 2,8-dihydroxyadenine
3. Gout with adenine phosphoribosyltransferase deficiency
4. Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency
5. Adenine phosphoribosyltransferase deficiency: Its inheritance and occurrence in a female with gout and renal disease
6. Adenine phosphoribosyltransferase deficiency in man
7. A specific enzyme defect in gout associated with overproduction of uric acid
8. Adenine phosphoribosyltransferase deficiency: A previously undescribed genetic defect in man
9. Protein measurement with the Folin phenol reagent
10. A spectrophotometric assay for hypoxanthineguanine phosphoribosyltransferase
11. Enzyme defect associated with a sex-linked human neurological disorder with excessive purine synthesis