Wakamatsu N - Search Results

1

Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.

Mizunuma M, Yamada Y, Yamada K, Sonta S, Wakamatsu N, Kaneko K, Ogasawara N, Fujimori S. Mizunuma M, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1173-6. doi: 10.1081/NCN-200027441. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571224

2

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Fukushi D, Wakamatsu N, Taniguchi A, Yamaoka N, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1272-5. doi: 10.1080/15257770.2011.597369. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132986

3

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

Yamada Y, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):218-22. doi: 10.1080/15257770.2013.865743. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940672

4

Novel mutation in HPRT1 causing a splicing error with multiple variations.

Baba S, Saito T, Yamada Y, Takeshita E, Nomura N, Yamada K, Wakamatsu N, Sasaki M. Baba S, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2017 Jan 2;36(1):1-6. doi: 10.1080/15257770.2016.1163381. Epub 2016 Oct 18. Nucleosides Nucleotides Nucleic Acids. 2017. PMID: 27754763

5

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):570-4. doi: 10.1080/15257770802135869. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600506

6

Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N. Yamada Y, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1169-72. doi: 10.1081/NCN-200027439. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571223

7

Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.

Yamada Y, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1248-55. doi: 10.1080/15257770.2011.603714. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132982

8

Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

Yamada Y, Nomura N, Yamada K, Wakamatsu N. Yamada Y, et al. Among authors: wakamatsu n. Mol Genet Metab. 2007 Jan;90(1):70-6. doi: 10.1016/j.ymgme.2006.08.013. Epub 2006 Oct 4. Mol Genet Metab. 2007. PMID: 17027311

9

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N. Yamada Y, et al. Among authors: wakamatsu n. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):291-4. doi: 10.1080/15257771003738691. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544509

10

Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.

Yamada Y, Nomura N, Kitoh H, Wakamatsu N, Ogasawara N. Yamada Y, et al. Among authors: wakamatsu n. Adv Exp Med Biol. 2000;486:29-33. doi: 10.1007/0-306-46843-3_6. Adv Exp Med Biol. 2000. PMID: 11783502 No abstract available.

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