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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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| Publicado en: | Ann Transl Med |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
AME Publishing Company
2015
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| Materias: | |
| Acceso en línea: | 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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