Učitavanje...
Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype
Uniparental disomy (UPD), which is the abnormal situation in which both copies of a chromosomal pair have been inherited from one parent, may cause clinical abnormalities by affecting genomic imprinting or causing autosomal recessive variation. Whole Exome Sequencing (WES) and chromosomal microarray...
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| Izdano u: | Exp Ther Med |
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| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
D.A. Spandidos
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4887894/ https://ncbi.nlm.nih.gov/pubmed/27284308 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2016.3241 |
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