| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3800709 | Medicina Clínica | 2011 | 4 Pages |
Abstract
To our knowledge, this patient is the first report of a major genetic defect, with no detectable enzymatic activity, and a partial HPRT deficiency phenotype. Our results question the hypothesis of a normally spliced HPRT cDNA as the sole cause of the patient partial phenotype.
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Authors
Rosa Torres Jiménez, Marta GarcÃa GarcÃa, Juan GarcÃa Puig,