The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes

As a result of the preference for consanguineous/endogamous marriages, the Israeli Arab population is composed of isolated communities with relatively frequent autosomal recessive (AR) conditions in each community. Clinical diagnosis of affected individuals has uncovered the pathogenic variants thro...

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Veröffentlicht in:	Clinical genetics 2021-11, Vol.100 (5), p.522-528
Hauptverfasser:	Khayat, Morad, Danial‐Farran, Nada, Chervinsky, Elena, Zehavi, Yoav, Peled‐Peretz, Lilach, Gafni‐Amsalem, Chen, Hakrosh, Shadia, Abu‐Leil Zouabi, Olfat, Tamir, Liron, Mamlouk, Efrat, Zlotogora, Joël, Shalev, Stavit A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Amino Acid Substitution autosomal recessive carrier screening Consanguinity Female founder Genes, Recessive Genetic counseling Genetic Predisposition to Disease Genetics, Population Humans Inheritance Patterns Israel Male Middle Aged Mutation Reproductive Isolation Whole Exome Sequencing Young Adult
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