Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

Summary 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...

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Vydané v:	Annals of human genetics Ročník 80; číslo 3; s. 187 - 196
Hlavní autori:	Erzurumluoglu, A. Mesut, Shihab, Hashem A., Rodriguez, Santiago, Gaunt, Tom R., Day, Ian N.M.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England Wiley Subscription Services, Inc 01.05.2016 John Wiley and Sons Inc
Predmet:	autozygosity Chromosome Mapping complex disease Consanguineous populations Consanguinity gene function Gene Silencing Genes Genetics, Population Genome, Human Genomes Heterozygote Homozygote Humans Mendelian disease Mutation Phenotype Review complex disease gene function Consanguineous populations Mendelian disease autozygosity
ISSN:	0003-4800, 1469-1809, 1469-1809
On-line prístup:	Získať plný text
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