id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_6idnvcomdvc6df3xv7vlawjwh4	Eric A. Sherman	Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10	2008.0	6	.pdf	application/pdf	3360	379	55	While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who revealed that the three Amish individuals were homozygous for a nonsynonymous sequence variant (c.895C/T, Arg299Trp). In affected individuals, urine molar ratios of glutarate to its derivatives (3-hydroxyglutarate, Genome-wide autozygosity mapping using three distantly related Old Order Amish children with GA3 identified a homozygous 4.7 Mb region on chromosome 7p14 C7orf10 (OMIM 609187) as a candidate based on its putative CoA transferase function (NCBI Gene) and mitochondrial targeting sequence (MitoProt). molar ratios of glutarate to 3-hydroxyglutarate and glutarylcarnitine were markedly elevated in GA3 (Figure 3), suggesting that the loss of C7orf10 function interferes with the Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10 Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10	./cache/work_6idnvcomdvc6df3xv7vlawjwh4.pdf	./txt/work_6idnvcomdvc6df3xv7vlawjwh4.txt