Phenotypic Variation Among Seven Members of One Family with Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase

We describe a family of seven boys affected by Lesch-Nyhan disease with various phenotypes. Further investigations revealed a mutation c.203T>C in the gene encoding HGprt of all members, with substitution of leucine to proline at residue 68 (p.Leu68Pro). Thus patients from this family display a w...

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Auteurs principaux: Ceballos-Picot, Irène, Augé, Franck, Fu, Rong, Olivier-Bandini, Anne, Cahu, Julie, Chabrol, Brigitte, Aral, Bernard, de Martinville, Bérengère, Lecain, Jean-Paul, Jinnah, H. A.
Format: Artigo
Langue:Inglês
Publié: 2013
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3830450/
https://ncbi.nlm.nih.gov/pubmed/24075303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.08.016
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