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HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch–Nyhan disease

Author:

Antonello Cossu,Sandro Orrù,Gabriella Jacomelli,Carlo Carcassi,Licinio Contu,Silvia Sestini,Maria Rita Corradi,Giuseppe Pompucci,Aldo Carcassi,Vanna Micheli

Publication:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Publisher:

Elsevier

Date:

January 2006

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