Literature DB >> 10518289

Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.

I Willers1, H Bolz, M Wehnert, A Gal.   

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Year:  1999        PMID： 10518289     DOI： 10.1023/a:1005522527689

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.

Authors:  J C Eads; G Scapin; Y Xu; C Grubmeyer; J C Sacchettini
Journal:  Cell       Date:  1994-07-29       Impact factor: 41.582

2.  Studies in fibroblasts of patients with the Lesch-Nyhan syndrome and HPRT variants. Correlation of HPRT activity with hypoxanthine utilization and growth in selection media.

Authors:  I Willers; S Singh; H W Goedde
Journal:  Enzyme       Date:  1984

Review 3.  A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Authors:  D G Sculley; P A Dawson; B T Emmerson; R B Gordon
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132
  3 in total
  3 in total

1.  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 2.  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.  Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients.

Authors:  Mohammed Alanazi; Abdulrahman Saud Al-Arfaj; Zainularifeen Abduljaleel; Hussein Fahad Al-Arfaj; Narasimha Reddy Parine; Jilani Purusottapatnam Shaik; Zahid Khan; Akbar Ali Khan Pathan
Journal:  Biomed Res Int       Date:  2014-07-09       Impact factor: 3.411
  3 in total

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