id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_xtgybuyxajfdjlqwibuztzvroa	Claus Lenski	Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly	2004	4	.pdf	application/pdf	1910	179	65	Although several families with X-linked mental retardation (XLMR) (Martin and Bell 1943; Allan et al. Mutations in the gene that codes for the polyglutamine tract binding protein 1, located in Xp11.2, have been In the other family presenting with MR and microcephaly (K9008), we detected a novel AG dinucleotide deletion at the end of exon 4 (c.575_576delAG), causing Advances in clinical delineation and in molecular unFigure 1 Families with novel mutations in the PQBP1 gene. mutation causes a frameshift and results in a premature truncation of the PQBP1 protein, which lacks the C2 domain. Gécz J, Sefiani A, et al (2003) Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation. McLaughlin JF, Kriegsmann E (1980) Developmental dyspraxias in a family with X-linked mental retardation (Renpenning syndrome). Familial sex-linked mental retardation. Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1 )Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly	./cache/work_xtgybuyxajfdjlqwibuztzvroa.pdf	./txt/work_xtgybuyxajfdjlqwibuztzvroa.txt