id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_jbacok4h7rhszlmfgtyvrcmaeu	R Koenekoop	Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis	1999.0	4	.pdf	application/pdf	2798	330	66	reported a new LCA locus on chromosome 14q24, but the gene Based on linkage data and a compelling physiological profile, PEDF is still, an obvious and intriguing candidate gene for photoreceptor degenerations, particularly LCA. Purpose: Leber congenital amaurosis (LCA) has been mapped to chromosome 17p13.1. study was to identify mutations and polymorphisms in the PEDF gene in LCA patients of diverse ethnic origin. Methods: Automated genotyping with four 17p13.1 markers flanking the PEDF gene was performed to assess homozygosity and PCR-SSCP combined with direct sequencing was used to detect mutations in the PEDF gene in 17 LCA Conclusions: We report the discovery of four new polymorphic alterations in the PEDF gene in LCA patients and exclude by RFLP analysis the PEDF gene as a common cause of Leber congenital amaurosis. remains an important candidate gene for inherited retinal diseases that map to chromosome 17p13 [24] such as, autosomal	./cache/work_jbacok4h7rhszlmfgtyvrcmaeu.pdf	./txt/work_jbacok4h7rhszlmfgtyvrcmaeu.txt