Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem

Nucleosides, Nucleotides and Nucleic Acids

Volumn 23, Issue 8-9, 2004, Pages 1165-1168

  Zoref Shani, E ^a   Bromberg, Y ^a   Hirsch, J ^a   Feinstein, S ^b   Frishberg, Y ^b   Sperling, O ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

5 Phosphoribosyl 1 pyrophosphate; Hypoxanthine guanine phosphoribosyltransferase; Lesch Nyhan variant

Indexed keywords

ALLOPURINOL; HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; ISOLEUCINE; METHIONINE; NUCLEOTIDE; PHOSPHORIBOSYL PYROPHOSPHATE; PURINE; THREONINE; URIC ACID;

AMINO ACID SUBSTITUTION; BINDING AFFINITY; BINDING SITE; CASE REPORT; CODON; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE; GENE AMPLIFICATION; GENE MUTATION; HEMOLYSATE; HPRT GENE; HPRTJERUSALEM GENE; HUMAN; HUMAN CELL; KIDNEY DISEASE; LANGUAGE DISABILITY; LESCH NYHAN SYNDROME; MALE; NUCLEOTIDE METABOLISM; POINT MUTATION; PRESCHOOL CHILD; PROTEIN BINDING; PROTEIN MOTIF; PRPP BINDING MOTIF; PURINE METABOLISM; SEQUENCE ANALYSIS;

BINDING SITES; CHILD, PRESCHOOL; CODON; DNA, COMPLEMENTARY; ERYTHROCYTES; FIBROBLASTS; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; ISOLEUCINE; LESCH-NYHAN SYNDROME; MALE; MUTATION; PHOSPHORIBOSYL PYROPHOSPHATE; POINT MUTATION; THREONINE;

EID: 10344264475     PISSN: 15257770     EISSN: None     Source Type: Journal    
DOI: 10.1081/NCN-200027436     Document Type: Conference Paper

References (4)

1. Jinnah, H.A.; De Gregorio, L.; Harris, J.C.; Nyhan, W.L.; O'Neill, J.P. Mutat. Res. 2000, 463, 309-326.
2. Jinnah, H.A.; Friedmann, T. Lesch-Nyhan diseaese and its variants. In The Metabolic and Molecular Bases of Disease, 8th Ed.; Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., Vogelstein, B., Eds.; McGraw-Hill: New York, 2001; 2537-2570.
3. Zoref-Shani, E.; Feinstein, S.; Frishberg, Y.; Bromberg, Y.; Sperling, O. Biochem. Biophys. Acta 2000, 1500, 197-203.
4. Zoref-Shani, E.; Bromberg, Y.; Hirsch, J.; Feinstein, S.; Frishberg, Y.; Sperling, O. Mol. Genet. Metab. 2003, 78, 158-161.