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Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions
Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very us...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949565/ https://www.ncbi.nlm.nih.gov/pubmed/27000383 http://dx.doi.org/10.1111/ahg.12150 |