Literature DB >> 9598049

HPRT-mutations in Italian Lesch-Nyhan patients.

B S Gathof1, M Rocchigiani, V Micheli, Z Gaigl, U Gresser.   

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Year:  1998        PMID： 9598049     DOI： 10.1007/978-1-4615-5381-6_29

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


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  1 in total

1.  Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.

Authors:  M Bertelli; D Randi; V Micheli; S Gallo; G Andrighetto; P Parmigiani; G Jacomelli; M Carella; C Lievore; M Pandolfo
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  1 in total

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