Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations-Reference-Cited by-同舟云学术

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

Published:2004-11 Issue:6 Volume:27 Page:767-773
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Bertelli M.¹,Randi D.¹,Micheli V.²,Gallo S.¹,Andrighetto G.¹,Parmigiani P.¹,Jacomelli G.²,Carella M.¹³,Lievore C.¹,Pandolfo M.⁴

Affiliation:

1. Istituto Malattie Rare Mauro Baschirotto BIRD Foundation Onlus; Costozza Vicenza Italy

2. ; Dipartimento di Biologia Molecolare; Università di Siena; Sienna Italy

3. ; Servizio Genetica Medica; Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale ‘Casa Sollievo Sofferenza’; San Giovanni Rotondo Italy

4. ; Service de Neurologie; Université Libre de Bruxelles, Hôpital Erasme; Brussels Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000045799.78633.23/fullpdf

Reference10 articles.

1. Detection of the carrier state for an X-linked disorder, the LeschNyhan syndrome, by the use of lymphocyte cloning;Dempsey;Hum Genet,1983

2. HPRT-mutations in Italian Lesch-Nyhan patients;Gathof;Adv Exp Med Biol,1998

3. The spectrum of inherited mutations causing HPRT deficiency:75 new cases and a review of 196 previously reported cases;Jinnah;Mutat Res,2000

4. Hypoxanthineguanine phosphoribosyl-transferase deficiency and erythrocyte synthesis of pyridine coenzymes;Micheli;Life Sci,1999

5. Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthineguanine phospho-ribosyltransferase;Micheli;Biochim Biophys Acta,2002

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1. Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients;Frontiers in Genetics;2022-04-26

2. Italian experience with Lesch-Nyhan patients and animal models of the disease;EUROBIOTECH J;2017

3. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene;Nucleosides, Nucleotides & Nucleic Acids;2017-05-19

4. The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease;JIMD Reports;2016

5. Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl;Brain and Development;2014-08

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