HPRT-mutations in Italian Lesch-Nyhan patients

Advances in Experimental Medicine and Biology

Volumn 431, Issue , 1998, Pages 151-153

  Gathof, B S ^a   Rocchigiani, M ^b   Micheli, V ^b   Gaigl, Z ^a   Gresser, U ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

CLINICAL ARTICLE; CONFERENCE PAPER; GENE DELETION; GENE MUTATION; HUMAN; ITALY; LESCH NYHAN SYNDROME; POINT MUTATION; PRIORITY JOURNAL;

EID: 0031836416     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-5381-6_29     Document Type: Conference Paper

References (8)

1. NF Cariello and TR Skopek (1993). Analysis of mutations occurring at the human hprt locus. J Mol Biol 231: 41-57.
2. RW Chen, VM Maher, JJ McCormick (1990). Effect of excision repair by diploid fibroblasts on the kinds and locations of mutations induced by (±)-7β,8α-dihydroxy-9α-,10α-epoxy-7,8,9,10- tetrahydrobenzopyrene in the HPRT gene of diploid human fibroblasts. Proc Nat Acad Sci, 89: 5413-5417.
3. RA Gibbs, PN Nguyen, A Edwards, AB Civitello, CT Caskey (1990). Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics 7: 235-244.
4. M Lesch and WL Nyhan (1964). A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36: 561.
5. WB Mattes, JA Hartley, KW Kohn (1986). DNA sequence selectivity of guanine-N7 alkylation by nitrogen mustards. Nucl Acids Res 14: 2971-2987.
6. J Nalbantoglu, D Hartley, G Phear, G Tear, M Meuth (1986). Spontaneous deletion formation at the aprt locus of hamster cells: the presence of short sequence homologies and dyad symmetries at deletion termini. EMBO J. 5: 1199-1204.
7. JE Seegmiller, FM Rosenbloom, WN Kelley (1967). Enzyme defect associated with a sex-liked human neurological disorder and excessive purine synthesis. Science 155: 1682.
8. K Sege-Petersen, J Chambers T Page, OW Jones, WL Nyhan (1992). Characterization of mutations in phenotypic variants of hypoxynthine phosphoribosyltransferase deficiency. Hum Mol Gen 6: 427-432.