Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
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DOI: 10.1002/humu.23605
Abstract: Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu‐Alu fusion events, in… read more here.
Keywords: ift81 protein; alu; duplication; alu alu ... See more keywords
Altered DNA repair creates novel Alu/Alu repeat‐mediated deletions
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DOI: 10.1002/humu.24193
Abstract: Alu elements are the most abundant source of nonallelic homology that influences genetic instability in the human genome. When there is a DNA double‐stranded break, the Alu element's high copy number, moderate length and distance… read more here.
Keywords: dna repair; dna; repeat mediated; alu alu ... See more keywords