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Description
  • Acrodysostosis is a dominantly inherited disorder. To identify the molecular basis od acrodysostosis we performed exome sequencing on five gnetically independent cases. Three different missense mutations in PDE4D, which endoced cyclic AMP specific phospodiesterases 4D were found to be heterozygous in three of cases.
  • Acrodysostosis is a dominantly inherited disorder. To identify the molecular basis od acrodysostosis we performed exome sequencing on five gnetically independent cases. Three different missense mutations in PDE4D, which endoced cyclic AMP specific phospodiesterases 4D were found to be heterozygous in three of cases. (en)
Title
  • Exome Sequencing Identifies PDE4D mutations in Acrodysostosis
  • Exome Sequencing Identifies PDE4D mutations in Acrodysostosis (en)
skos:prefLabel
  • Exome Sequencing Identifies PDE4D mutations in Acrodysostosis
  • Exome Sequencing Identifies PDE4D mutations in Acrodysostosis (en)
skos:notation
  • RIV/00216224:14310/12:00059828!RIV13-MSM-14310___
http://linked.open...avai/predkladatel
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • S
http://linked.open...iv/cisloPeriodika
  • 4
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 135469
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14310/12:00059828
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • exome; PDE4D; Acrodysostosis (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [DCD63BAAC863]
http://linked.open...i/riv/nazevZdroje
  • The American Journal of Human Genetics
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http://linked.open...ichTvurcuVysledku
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http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 90
http://linked.open...iv/tvurceVysledku
  • Krejčí, Pavel
  • Krakow, D.
  • Lachman, R. S.
  • Cohn, D. H.
  • Graham, J. M.
  • Lee, Hane
  • Nelson, S. F.
  • Rimoin, D. L.
  • Tompson, S. W.
http://linked.open...ain/vavai/riv/wos
  • 000302833400020
issn
  • 0002-9297
number of pages
http://bibframe.org/vocab/doi
  • 10.1016/j.ajhg.2012.03.004
http://localhost/t...ganizacniJednotka
  • 14310
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