000 02060 a2200601 4500
005 20250517124614.0
264 0 _c20180112
008 201801s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.23146
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aNilsson, Daniel
245 0 0 _aWhole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
_h[electronic resource]
260 _bHuman mutation
_c02 2017
300 _a180-192 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
650 0 4 _aBase Sequence
650 0 4 _aChromosome Breakage
650 0 4 _aChromosome Mapping
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aDNA Copy Number Variations
650 0 4 _aFemale
650 0 4 _aGenetic Association Studies
650 0 4 _aGenomics
_xmethods
650 0 4 _aGenotype
650 0 4 _aHomologous Recombination
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aKaryotype
650 0 4 _aMale
650 0 4 _aPhenotype
650 0 4 _aTranslocation, Genetic
650 0 4 _aWhole Genome Sequencing
700 1 _aPettersson, Maria
700 1 _aGustavsson, Peter
700 1 _aFörster, Alisa
700 1 _aHofmeister, Wolfgang
700 1 _aWincent, Josephine
700 1 _aZachariadis, Vasilios
700 1 _aAnderlid, Britt-Marie
700 1 _aNordgren, Ann
700 1 _aMäkitie, Outi
700 1 _aWirta, Valtteri
700 1 _aKäller, Max
700 1 _aVezzi, Francesco
700 1 _aLupski, James R
700 1 _aNordenskjöld, Magnus
700 1 _aLundberg, Elisabeth Syk
700 1 _aCarvalho, Claudia M B
700 1 _aLindstrand, Anna
773 0 _tHuman mutation
_gvol. 38
_gno. 2
_gp. 180-192
856 4 0 _uhttps://doi.org/10.1002/humu.23146
_zAvailable from publisher's website
999 _c26618218
_d26618218