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Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e. signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic test...
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| Vydáno v: | Intractable Rare Dis Res |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5359358/ https://ncbi.nlm.nih.gov/pubmed/28357186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01076 |
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