id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_xq667g3znrecdixtznlmy4rtni	B. Xin	Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome	2012.0		.pdf	text/html	981	159	66	Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome | Semantic Scholar Corpus ID: 27161114Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome title={Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome}, Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive multisystem degeneration and segmental premature aging. Sequence analysis of the ERCC6 gene revealed 2 novel mutations associated with the disorder in these patients. Figures and Topics from this paper Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family View 1 excerpt, cites results Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing View 1 excerpt, cites background Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B. View 1 excerpt, references background	./cache/work_xq667g3znrecdixtznlmy4rtni.pdf	./txt/work_xq667g3znrecdixtznlmy4rtni.txt