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Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis
We report maternal uniparental disomy of chromosome 17 (mat UPD17) in a 2.5-year-old girl presenting infantile cystinosis. This patient was homozygous for the 57 kb deletion encompassing the CTNS gene, frequently found in patients from the European origin. The proband's mother was heterozygous...
में बचाया:
| मुख्य लेखकों: | , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Nature Publishing Group
2009
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986554/ https://ncbi.nlm.nih.gov/pubmed/19259134 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.13 |
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