id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_6c6566wilfe4td7uzhgs34vqiu	Jane A. Evans	Old meets new: identifying founder mutations in genetic disease	2015	2	.pdf	application/pdf	1592	128	55	Old meets new: identifying founder mutations in genetic disease disease frequency and population genetics principles has been around for some time, the application of modern methods for gene identification of a common mutation in the SI gene responsible for congenital sucrase–isomaltase deficiency in Inuit, a condition highly prevalent in this population. disease type IIIa to identify a founder mutation that the founder mutation for autosomal recessive infantile leukoencephalopathy, seen in Cree • Founder mutations are often responsible for the high prevalence of rare genetic disorders in specific populations, but are also associated being present in people from populations in which a genetic condition the high prevalence of recessive disease is a consequence of a high carrier frequency due to founder mutation causing glycogen storage disease type IIIa in Inuit in glycogen storage disease type IIIA in a population of North Study of a single BRCA2 mutation with high carrier frequency in a small population.	./cache/work_6c6566wilfe4td7uzhgs34vqiu.pdf	./txt/work_6c6566wilfe4td7uzhgs34vqiu.txt