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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...

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Detalhes bibliográficos
Publicado no:Ann Hum Genet
Main Authors: Erzurumluoglu, A. Mesut, Shihab, Hashem A., Rodriguez, Santiago, Gaunt, Tom R., Day, Ian N.M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4949565/
https://ncbi.nlm.nih.gov/pubmed/27000383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12150
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