AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

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作者： Elizabeth L,Virts ^[1] ; Anna,Jankowska ^[1] ; Craig,Mackay ^[2] ; Marcel F,Glaas ^[3] ; Constanze,Wiek ^[3] ; Stephanie L,Kelich ^[1] ; Nadine,Lottmann ^[3] ; Felicia M,Kennedy ^[1] ; Christophe,Marchal ^[1] ; Erik,Lehnert ^[4] ; Rüdiger E,Scharf ^[4] ; Carlo,Dufour ^[5] ; Marina,Lanciotti ^[5] ; Piero,Farruggia ^[6] ; Alessandra,Santoro ^[7] ; Süreyya,Savasan ^[8] ; Kathrin,Scheckenbach ^[3] ; Jörg,Schipper ^[3] ; Martin,Wagenmann ^[3] ; Todd,Lewis ^[9] ; Michael,Leffak ^[9] ; Janice L,Farlow ^[10] ; Tatiana M,Foroud ^[10] ; Ellen,Honisch ^[11] ; Dieter,Niederacher ^[11] ; Sujata C,Chakraborty ^[10] ; Gail H,Vance ^[10] ; Dmitry,Pruss ^[12] ; Kirsten M,Timms ^[12] ; Jerry S,Lanchbury ^[12] ; Arno F,Alpi ^[13] ; Helmut,Hanenberg ^[14]

作者单位： Department of Pediatrics and. ^[1] Department of MRC Protein Phosphorylation and Ubiquitylation Unit, College of Life Sciences, University of Dundee, Dundee, UK. ^[2] Department of Otorhinolaryngology and Head/Neck Surgery (ENT) and. ^[3] Department of Experimental and Clinical Hemostasis, Hemotherapy and Transfusion Medicine, Heinrich Heine University, Düsseldorf, Germany. ^[4] Hematology Unit, G. Gaslini Children's Hospital, Genoa, Italy. ^[5] Pediatric Hematology and Oncology Unit, A.R.N.A.S. Ospedale Civico, Palermo, Italy. ^[6] A.O. Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy. ^[7] Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI, USA. ^[8] Department of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, OH 45435, USA. ^[9] Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA. ^[10] Department of Gynecology, Heinrich Heine University, Düsseldorf, Germany and. ^[11] Myriad Genetics Inc., Salt Lake City, UT, USA. ^[12] Department of MRC Protein Phosphorylation and Ubiquitylation Unit, College of Life Sciences, University of Dundee, Dundee, UK, hhanenbe@iu.edu a.f.alpi@dundee.ac.uk. ^[13] Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA, Department of Otorhinolaryngology and Head/Neck Surgery (ENT) and hhanenbe@iu.edu a.f.alpi@dundee.ac.uk. ^[14]