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AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy
Uniparental disomy (UPD) represents an imbalance in the distribution of paternal and maternal chromosomes in the offspring. It is defined as a condition in which both homologues of a chromosome are inherited from only one parent. UPD for some chromosomes does not exert any adverse effect on an indiv...
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| Udgivet i: | Ann Transl Med |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
AME Publishing Company
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563401/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB064 |
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