id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_vztrl2gfz5h25jnfih66ooqrwy	Stacey Bolk	Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites	1999	6	.pdf	application/pdf	3356	312	58	encompass a heterogeneous group of disorders, congenital nephrotic syndrome of the Finnish type (NPHS1 transmembrane protein belonging to the immunoglobulin family of cell-adhesion molecules, has been identified as the gene mutated in NPHS1, with loss-of-function incidence is 20 times greater than that observed in Finland and predicts that ∼8% of Groffdale Mennonites a major mutation is shared by families with NPHS1 that suggest that the major Mennonite mutation most likely predated the Weaverland-Groffdale split, since one Figure 1 Haplotype analysis of four Mennonite nuclear families with NPHS1. table 2, of NPHS1-transmitting parents and homozygosity for a haplotype in proband 3898 are shown. We have found that the single Weaverland Conference patient with NPHS1 (6986) is a compound heterozygote for the major Mennonite mutation, 1481delC is the only mutation segregating in seven nuclear families from the Groffdale Conference (fig. rarity of NPHS1 mutations in most populations, identified here among non-Mennonites only when combined	./cache/work_vztrl2gfz5h25jnfih66ooqrwy.pdf	./txt/work_vztrl2gfz5h25jnfih66ooqrwy.txt