Article
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Human mutation - 1 Dec 2018
Szafranski Przemyslaw, Kośmider Ewelina, Liu Qian, Karolak Justyna A, Currie Lauren, Parkash Sandhya, Kahler Stephen G, Roeder Elizabeth, Littlejohn Rebecca O, DeNapoli Thomas S, Shardonofsky Felix R, Henderson Cody, Powers George, Poisson Virginie, Bérubé Denis, Oligny Luc, Michaud Jacques L, Janssens Sandra, De Coen Kris, Van Dorpe Jo, Dheedene Annelies, Harting Matthew T, Weaver Matthew D, Khan Amir M, Tatevian Nina, Wambach Jennifer, Gibbs Kathleen A, Popek Edwina, Gambin Anna, Stankiewicz Paweł
Abstract excerpt
Transposable elements modify human genome by inserting into new loci or by mediating homology-, microhomology-, or homeology-driven DNA recombination or repair, resulting in genomic structural variation. Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal neonatal developmental lung disorder caused by point mutations or copy-number variant (CNV) deletions of FOXF1 or its...
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