id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_6sdqv7ydjzgu3f54hikblounp4	Inge B. Mathijssen	With expanded carrier screening, founder populations run the risk of being overlooked	2017	7	.pdf	application/pdf	6004	2234	84	Genetics 2009), targeted carrier screening for severe and frequent disorders in different isolated (mainly Arab and Druze) However, the carrier frequencies of several autosomal recessive disorders in genetically isolated populations can be In some genetically isolated populations, carrier frequencies of disorders which are rare or almost non-existent in the 1) and Dutch founder mutations not related to a specific genetically isolated community were not included (Zeegers et al. We therefore made a selection of founder mutations present in different genetically isolated populations for As can be seen, the carrier frequencies of generally rare disorders are high in these genetically isolated populations. disorders is included in the carrier screening test, but the founder mutation is not. being a carrier; e.g. carrier screening for four autosomal recessive disorders in a genetically isolated community (Mathijssen In genetically isolated populations, carrier frequencies of generally rare autosomal recessive founder mutations can be very	./cache/work_6sdqv7ydjzgu3f54hikblounp4.pdf	./txt/work_6sdqv7ydjzgu3f54hikblounp4.txt