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Somatic mosaicism for copy number variation in differentiated human tissues

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Arkadiusz Piotrowski
  • Carl E G Bruder
  • Andersson, Robin
  • Teresita Diaz de Ståhl
  • Uwe Menzel
  • Johanna Sandgren
  • Andrzej Poplawski
  • Desiree von Tell
  • Chiquito Crasto
  • Adam Bogdan
  • Rafal Bartoszewski
  • Zsuzsa Bebok
  • Maciej Krzyzanowski
  • Zbigniew Jankowski
  • E Christopher Partridge
  • Jan Komorowski
  • Jan P Dumanski
Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue
OriginalsprogEngelsk
TidsskriftHuman Mutation
Vol/bind29
Udgave nummer9
Sider (fra-til)1118-24
Antal sider7
ISSN1059-7794
DOI
StatusUdgivet - sep. 2008
Eksternt udgivetJa

ID: 106775975