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Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

✍ Scribed by Julia Vogt; Tanja Mussotter; Kathrin Bengesser; Kathleen Claes; Josef Högel; Nadia Chuzhanova; Chuanhua Fu; Jenneke van den Ende; Victor-Felix Mautner; David N. Cooper; Ludwine Messiaen; Hildegard Kehrer-Sawatzki

Book ID: 115556421
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 399 KB
Volume: 33
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.22171

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Large microdeletions encompassing the neurofibromatosis type-1 (NF1) gene and its flanking regions at 17q11.2 belong to the group of genomic disorders caused by aberrant recombination between segmental duplications. The most common NF1 microdeletions (type-1) span 1.4-Mb and have breakpoints located