id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_mirri7mforfg7ejaaue5cz7w7q	E. G. Puffenberger	Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function	2004.0	6	.pdf	application/pdf	5615	664	63	the testes syndrome (SIDDT) by a SNP genome scan High-density singlenucleotide polymorphism (SNP) genotyping arrays containing high-throughput genotyping strategy for disease gene mapping DNA samples used in mapping and sequencing studies of SIDDT were acquired by the Clinic for Abbreviations: SIDDT, sudden infant death with dysgenesis of the testes syndrome; TSPYL, (A) TSPYL 457�458insG mutation status is indicated for available pedigree members (m denotes (B) Sequencing of TSPYL reveals a homozygous single base-pair insertion (457�458insG) in SIDDT TSPYL4 genes in the linked region on chromosome 6q22. and two-point LOD scores for each SNP are plotted to illustrate that information content of biallelic markers in small pedigrees alone make mapping TSPYL sequencing primers (in addition to the forward and reverse Accurate disease gene localization using the Affymetrix GeneChip Mapping 10K Assay Kit and the Silicon Genetics VARIA software package. Complete sequencing of the TSPYL gene in an affected Mutation of the TSPYL gene causes SIDDT.	./cache/work_mirri7mforfg7ejaaue5cz7w7q.pdf	./txt/work_mirri7mforfg7ejaaue5cz7w7q.txt