Učitavanje...
Fortuitous detection of uniparental isodisomy of chromosome 6.
Uniparental isodisomy is defined as the inheritance of two copies of the same parental chromosome and can result in defects when it produces homozygosity for a recessive mutation or in the presence of imprinting. We describe the detection of a chromosome 6 uniparental isodisomy in a 9 year old girl,...
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| Glavni autori: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1997
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050851/ https://ncbi.nlm.nih.gov/pubmed/9032654 |
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