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10.3233/PGE-14079 http://scihub22266oqcxt.onion/10.3233/PGE-14079 C5020982!5020982!27625865     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27625865&cmd=llinks): Failed to open stream: HTTP request failed! 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The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene |pdf=|usr=}}{{27625865}} gab.com Text The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene JO: J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625865 #FOAvip Recent studies have identified the molecular defect underlying autosomal dominant osteogenesis imperfecta (OI) type V. Unlike all other OI types, which are characterized by high genetic heterogeneity, OI type V appears consistently associated to a unique de novo C>T transition within the 5? UTR of the IFITM5 gene. Although the precise frequency of OI type V is not known, this recurrent base substitution may well represent a mutational hotspot in the human genome. We show that it occurs at a CpG dinucleotide that is highly methylated in several tissues and particularly in the sperm DNA, suggesting a mutational mechanism common to other de novo recurrent dominant mutations. Twit Text FOAVip The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene ????J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625865 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27625865 #FOAvip English Wikipedia <ref>{{Cite pmid|27625865}}</ref> The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene #MMPMID27625865 Corradi M; Monti E; Venturi G; Gandini A; Mottes M; Antoniazzi F J Pediatr Genet 2014[Mar]; 3 (1): 35-9 PMID27625865show ga Recent studies have identified the molecular defect underlying autosomal dominant osteogenesis imperfecta (OI) type V. Unlike all other OI types, which are characterized by high genetic heterogeneity, OI type V appears consistently associated to a unique de novo C>T transition within the 5? UTR of the IFITM5 gene. Although the precise frequency of OI type V is not known, this recurrent base substitution may well represent a mutational hotspot in the human genome. We show that it occurs at a CpG dinucleotide that is highly methylated in several tissues and particularly in the sperm DNA, suggesting a mutational mechanism common to other de novo recurrent dominant mutations. äThe recurrent causal mutation for osteogenesis imperfecta type V occur(epmc).pdf DeepDyve Pubget Overpricing