메뉴 건너뛰기




Volumn 39, Issue 1, 1998, Pages 103-111

Different mutations in Polish patients with HPRT deficiency - The Lesch-Nyhan and Kelley-Seegmiller syndromes

Author keywords

Deletion; HPRT deficiency; Kelley Seegmiller syndrome; Lesch Nyhan syndrome; Point mutation

Indexed keywords


EID: 0542447496     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (24)
  • 2
    • 0029010044 scopus 로고
    • Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies
    • (Sahota A. and Taylor M. eds). Plenum Press, New York
    • BURGEMEISTER R., GUTENSOHN W., VAN DEN BERGHE G., JAEKEN J. (1995). Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies. In: Purine and pyrimidine metabolism in man VIII (Sahota A. and Taylor M. eds). Plenum Press, New York: 331-335.
    • (1995) Purine and Pyrimidine Metabolism in Man VIII , pp. 331-335
    • Burgemeister, R.1    Gutensohn, W.2    Van Den Berghe, G.3    Jaeken, J.4
  • 3
    • 0025364861 scopus 로고
    • The mutational spectrum of single base pair substitutions causing human genetic disease: Patterns and predictions
    • COOPER D.N., KRAWCZAK M. (1990). The mutational spectrum of single base pair substitutions causing human genetic disease: patterns and predictions. Hum. Genet. 85: 55-74.
    • (1990) Hum. Genet. , vol.85 , pp. 55-74
    • Cooper, D.N.1    Krawczak, M.2
  • 5
    • 0024375359 scopus 로고
    • Molecular basis of hypoxanthine - Guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts
    • DAVIDSON B. L., TARLÉ S.A., PALELLA T.D., KELLEY W.N. (1989). Molecular basis of hypoxanthine - guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. J. Clin. Invest. 84: 342-346.
    • (1989) J. Clin. Invest. , vol.84 , pp. 342-346
    • Davidson, B.L.1    Tarlé, S.A.2    Palella, T.D.3    Kelley, W.N.4
  • 6
    • 0025906669 scopus 로고
    • Identification of 17 independent mutations responsible for human hypoxanthine - Guanine phosphoribosyltransferase (HPRT) deficiency
    • DAVIDSON B.L., TARLÉ S.A., VAN ANTWERP M., GIBBS R.A., WATTS R.W.E., KELLEY W.N., PALELLA T.D. (1991). Identification of 17 independent mutations responsible for human hypoxanthine - guanine phosphoribosyltransferase (HPRT) deficiency. Am. J. Hum. Genet. 48: 951-958.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 951-958
    • Davidson, B.L.1    Tarlé, S.A.2    Van Antwerp, M.3    Gibbs, R.A.4    Watts, R.W.E.5    Kelley, W.N.6    Palella, T.D.7
  • 8
    • 0029070197 scopus 로고
    • Clinical symptoms of patients with partial HPRT deficiency
    • (Sahota A. and Taylor M. eds). Plenum Press, New York
    • GATHOF B.S., JURGENS D., GRESSER U. (1995). Clinical symptoms of patients with partial HPRT deficiency. In: Purine and pyrimidine metabolism in man. VIII (Sahota A. and Taylor M. eds). Plenum Press, New York: 341-344.
    • (1995) Purine and Pyrimidine Metabolism in Man , vol.8 , pp. 341-344
    • Gathof, B.S.1    Jurgens, D.2    Gresser, U.3
  • 9
    • 1842267323 scopus 로고
    • Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA
    • GIBBS R.A., NGUYEN P.-N., MCBRIDE L.J., KOEPF S.M., CASKEY C.T. (1989). Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. Nat. Acad. Sci. USA 86: 1919-1923.
    • (1989) Proc. Nat. Acad. Sci. USA , vol.86 , pp. 1919-1923
    • Gibbs, R.A.1    Nguyen, P.-N.2    Mcbride, L.J.3    Koepf, S.M.4    Caskey, C.T.5
  • 10
    • 0015335057 scopus 로고
    • A rapid assay for purine phosphoribosyltransferases
    • GUTENSOHN W., GUROFF G. (1972). A rapid assay for purine phosphoribosyltransferases. Analyt. Biochem. 47: 132-138.
    • (1972) Analyt. Biochem. , vol.47 , pp. 132-138
    • Gutensohn, W.1    Guroff, G.2
  • 13
    • 0023522749 scopus 로고
    • Characterization of cDNA clones of hypoxanthine -guanine phosphoribosyltransferase from the human malarial parasite, Plasmodium falciparum: Comparisons to the mammalian gene and protein
    • KING A., MELTON D.W. (1987). Characterization of cDNA clones of hypoxanthine -guanine phosphoribosyltransferase from the human malarial parasite, Plasmodium falciparum: comparisons to the mammalian gene and protein. Nucl. Acids Res. 15: 10469-10481.
    • (1987) Nucl. Acids Res. , vol.15 , pp. 10469-10481
    • King, A.1    Melton, D.W.2
  • 14
    • 0001168164 scopus 로고
    • A familial disorder of uric acid metabolism and central nervous system function
    • LESCH M., NYHAN W.L. (1964). A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 36: 561-570.
    • (1964) Am. J. Med. , vol.36 , pp. 561-570
    • Lesch, M.1    Nyhan, W.L.2
  • 15
    • 0026650140 scopus 로고
    • Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests
    • MARCUS S., STEEN A.M., ANDERSSON B., LAMBERT B., KRISTOFFERSSON U., FRANCKE U. (1992). Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. Hum. Genet. 89: 395-400.
    • (1992) Hum. Genet. , vol.89 , pp. 395-400
    • Marcus, S.1    Steen, A.M.2    Andersson, B.3    Lambert, B.4    Kristoffersson, U.5    Francke, U.6
  • 16
    • 0028204929 scopus 로고
    • Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome
    • MATEOS F.A., PUIG J.G. (1994). Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome. J. Inher. Metab. Dis. 17: 138-142.
    • (1994) J. Inher. Metab. Dis. , vol.17 , pp. 138-142
    • Mateos, F.A.1    Puig, J.G.2
  • 19
    • 0001127049 scopus 로고
    • Hypoxanthine - Guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout
    • (Scriver C.R., Beaudet A.L., Sly W.S., Valle D. eds). 7th edn., New York: McGraw-Hill
    • ROSSITER B.J.F., CASKEY C.T. (1995). Hypoxanthine - guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout. In: The metabolic and molecular basis of inherited disease (Scriver C.R., Beaudet A.L., Sly W.S., Valle D. eds). 7th edn., New York: McGraw-Hill.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease
    • Rossiter, B.J.F.1    Caskey, C.T.2
  • 20
    • 0025990104 scopus 로고
    • Hypoxanthine - Guanine phosphoribosyltransferase deficiency: Analysis of HPRT mutations by direct sequencing and allele - specific amplification
    • SCULLEY D.G., DAWSON P.A., BEACHAM J.R., EMMERSON B.T., GORDON R.B. (1991). Hypoxanthine - guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele - specific amplification. Hum. Genet. 87: 688-692.
    • (1991) Hum. Genet. , vol.87 , pp. 688-692
    • Sculley, D.G.1    Dawson, P.A.2    Beacham, J.R.3    Emmerson, B.T.4    Gordon, R.B.5
  • 21
    • 0026591855 scopus 로고
    • A review of the molecular basis of hypoxanthine - Guanine phosphoribosyltransferase (HPRT) deficiency
    • SCULLEY D.G., DAWSON P.A., EMMERSON B.T., GORDON R.B. (1992). A review of the molecular basis of hypoxanthine - guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 90: 195-207.
    • (1992) Hum. Genet. , vol.90 , pp. 195-207
    • Sculley, D.G.1    Dawson, P.A.2    Emmerson, B.T.3    Gordon, R.B.4
  • 24
    • 0027050035 scopus 로고
    • Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine -guanine phosphoribosyltransferase (HPRT) deficiency
    • YAMADA Y., GOTO H., SUZUMORI K., ADACHI R., OGASAWARA N. (1992). Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine -guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 90: 379-384.
    • (1992) Hum. Genet. , vol.90 , pp. 379-384
    • Yamada, Y.1    Goto, H.2    Suzumori, K.3    Adachi, R.4    Ogasawara, N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.