Literature DB >> 7660995

Direct evidence for a hot spot of germline mutation at HPRT locus.

S Fujimori1, T Tagaya, N Yamaoka, H Saito, N Kamatani, I Akaoka.   

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Year:  1994        PMID： 7660995     DOI： 10.1007/978-1-4615-2584-4_141

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  3 in total

1.  Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Authors:  Ja Hyang Cho; Jin-Ho Choi; Sun Hee Heo; Gu-Hwan Kim; Mi-Sun Yum; Beom Hee Lee; Han-Wook Yoo
Journal:  Metab Brain Dis       Date:  2019-05-25       Impact factor: 3.584

2.  Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Authors:  Rong Fu; H A Jinnah
Journal:  J Biol Chem       Date:  2011-12-07       Impact factor: 5.157

Review 3.  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
  3 in total

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