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Nucleosides, Nucleotides & Nucleic Acids Volume 27, 2008 - Issue 6-7
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Proceedings of the 12th International Symposium on Purine and Pyrimidine Metabolism in Man (PP07)

Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations

Yasukazu Yamada Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai Aichi, Japan
,
Noriko Nomura Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai Aichi, Japan
,
Kenichro Yamada Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai Aichi, Japan
,
Nobuaki Wakamatsu Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai Aichi, Japan
,
Kiyoko Kaneko Laboratory of Analytical Chemistry, School of Pharmaceutical Science, Teikyo University, Japan
&
Shin Fujimori Department of Internal Medicine, School of Medicine, Teikyo University, Japan
Pages 570-574 | Published online: 03 Jul 2008

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Y. Yamada, K. Yamada, N. Nomura, A. Yamano, R. Kimura, S. Tomida, M. Naiki & N. Wakamatsu. (2010) Molecular Analysis of Two Enzyme Genes, HPRT1 and PRPS1, Causing X-Linked Inborn Errors of Purine Metabolism. Nucleosides, Nucleotides & Nucleic Acids 29:4-6, pages 291-294.
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Articles from other publishers (3)

Rong Fu & H.A. Jinnah. (2012) Genotype-Phenotype Correlations in Lesch-Nyhan Disease. Journal of Biological Chemistry 287:5, pages 2997-3008.
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Paola de Gemmis, Laura Anesi, Elisa Lorenzetto, Ilenia Gioachini, Elisabetta Fortunati, Gessica Zandonà, Erika Fanin, Lynette Fairbanks, Gilberto Andrighetto, Pietro Parmigiani, Diego Dolcetta, William L. Nyhan & Uros Hladnik. (2010) Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 692:1-2, pages 1-5.
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A. Jurecka, E. Popowska, A. Tylki‐Szymanska, J. Kubalska, E. Ciara, Z. Krumina, J. Sykut‐Cegielska & E. Pronicka. (2008) Hypoxanthine‐guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations. Journal of Inherited Metabolic Disease 31:S2, pages 447-451.
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