id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_nyvaazofgrf5rbekybqlat5l6a	M. L. Schroeder	Genotyping an immunodeficiency causing c.1624–11G>A ZAP70 mutation in Canadian Mennonites	2016	4	.pdf	application/pdf	2749	267	56	Genotyping an immunodeficiency causing c.1624–11G>A ZAP70 mutation in Canadian Mennonites Methods: Initially, DNA from probands affected with primary immunodeficiency and their family members was Among 125 study participants of Mennonite descent, 79 genotyped as normal, whereas one of ten random DNA samples from individuals who self-identified as Mennonite was a carrier. Early identification of affected individuals has provided an opportunity for timely clinical intervention, these is an autosomal recessively inherited ZAP-70 (zetachain associated protein kinase 70) deficiency, which despite having a less severe clinical phenotype, typically results members, 20 other individuals of the broader community volunteered samples for ZAP70 genotyping. Not all individuals depicted were tested for the ZAP70 mutation DNA from known normal, carrier and affected individuals. Subsequently, Sanger sequencing (Fig. 2a) of DNA from these three affected individuals normal, and also from ten random individuals who selfidentified as of Mennonite descent, one of whom genotyped as a carrier.	./cache/work_nyvaazofgrf5rbekybqlat5l6a.pdf	./txt/work_nyvaazofgrf5rbekybqlat5l6a.txt