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Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
Lesch–Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar pheno...
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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3034646/ https://ncbi.nlm.nih.gov/pubmed/20981450 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0901-9 |
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