Literature DB >> 24893700

Lesch-Nyhan disease with no HPRT1 gene mutation?

H A Jinnah1.   

Abstract

Entities:  

Year:  2014        PMID： 24893700      PMCID： PMC4876433          DOI： 10.1016/j.rce.2014.04.007

Source DB:  PubMed          Journal:  Rev Clin Esp (Barc)        ISSN： 2254-8874


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  9 in total

1.  From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.

Authors:  M Trigueros Genao; R J Torres
Journal:  Rev Clin Esp (Barc)       Date:  2014-05-23

2.  Normal HPRT coding region in a male with gout due to HPRT deficiency.

Authors:  Paul A Dawson; Ross B Gordon; Dianne T Keough; Bryan T Emmerson
Journal:  Mol Genet Metab       Date:  2005-02-16       Impact factor: 4.797

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

Authors:  Yasukazu Yamada; Kenichiro Yamada; Noriko Nomura; Arisa Yamano; Reiko Kimura; Misako Naiki; Daisuke Fukushi; Nobuaki Wakamatsu; Atsuo Taniguchi; Noriko Yamaoka; Kiyoko Kaneko; Shin Fujimori
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2011-12       Impact factor: 1.381

4.  HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.

Authors:  A Corrigan; M Arenas; E Escuredo; L Fairbanks; A Marinaki
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2011-12       Impact factor: 1.381

5.  Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.

Authors:  A Taniguchi; Y Yamada; M Hakoda; C Sekita; M Kawamoto; H Kaneko; H Yamanaka
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2011-12       Impact factor: 1.381

6.  Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.

Authors:  Khue Vu Nguyen; Robert K Naviaux; Kacie K Paik; William L Nyhan
Journal:  Mol Genet Metab       Date:  2012-06-19       Impact factor: 4.797

7.  Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.

Authors:  K Sege-Peterson; J Chambers; T Page; O W Jones; W L Nyhan
Journal:  Hum Mol Genet       Date:  1992-09       Impact factor: 6.150

8.  Normal HPRT coding region in complete and partial HPRT deficiency.

Authors:  Marta G García; Rosa J Torres; Carmen Prior; Juan G Puig
Journal:  Mol Genet Metab       Date:  2008-03-07       Impact factor: 4.797

Review 9.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501
  9 in total

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