Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

Journal of Inherited Metabolic Disease

Volumn 22, Issue 7, 1999, Pages 845-846

  Willers, I ^a   Bolz, H ^a   Wehnert, M ^b   Gal, A ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; LESCH NYHAN SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; RNA SPLICING; SEQUENCE ANALYSIS;

HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MUTATION;

EID: 0032824852     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005522527689     Document Type: Article

References (3)

1. Eads JC, Scapin G, Xu Y, Grubmeyer C, Sacchettini JC (1994) The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Cell 78: 325-334.
2. Sculley DG, Dawson PA, Emmerson BT, Gordon RB (1992) A review of the molecular basis of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 90: 195-207.
3. Willers I, Singh S, Goedde HW (1984) Studies in fibroblasts of patients with Lesch-Nyhan syndrome and HPRT variants. Enzyme 32: 241-247.