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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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| Main Authors: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2013
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| 主題: | |
| 在線閱讀: | 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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