Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers-Reference-Cited by-同舟云学术

Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers

Published:2010-10 Issue:1-2 Volume:692 Page:1-5
ISSN:0027-5107
Container-title:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
language:en
Short-container-title:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Author:

de Gemmis Paola,Anesi Laura,Lorenzetto Elisa,Gioachini Ilenia,Fortunati Elisabetta,Zandonà Gessica,Fanin Erika,Fairbanks Lynette,Andrighetto Gilberto,Parmigiani Pietro,Dolcetta Diego,Nyhan William L.,Hladnik Uros

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics,Molecular Biology

Reference20 articles.

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3. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts;Davidson;J. Clin. Invest.,1989

4. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations;Yamada;Nucleos. Nucleot. Nucl.,2008

5. The spectrum of mutations causing HPRT deficiency: an update;Jinnah;Nucleos. Nucleot. Nucl.,2004

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4. Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients;Journal of Inborn Errors of Metabolism and Screening;2021

5. Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency;Molecular Genetics and Metabolism;2019-06