About: Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome     Goto   Sponge   NotDistinct   Permalink

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Description
  • Patients affected by the autosomal recessive Nijmegen Breakage Syndrome (NBS [MIM 251260]) have possibly the highest risk for developing a malignancy of all the chromosomal instability syndromes. This reflects the profound disturbance to genomic integrity and cellular homeostasis that is caused by the mutation of the essential mammalian gene, NBN.
  • Patients affected by the autosomal recessive Nijmegen Breakage Syndrome (NBS [MIM 251260]) have possibly the highest risk for developing a malignancy of all the chromosomal instability syndromes. This reflects the profound disturbance to genomic integrity and cellular homeostasis that is caused by the mutation of the essential mammalian gene, NBN. (en)
Title
  • Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
  • Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome (en)
skos:prefLabel
  • Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
  • Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome (en)
skos:notation
  • RIV/00216208:11130/09:5465!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR7916)
http://linked.open...iv/cisloPeriodika
  • 1
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 307298
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/09:5465
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • DNA repair; Nonsense-mediated mRNA decay; Hypomorphic mutation; Proteasome inhibition; messenger-rna decay; nbs1 contributes; gene-mutations; disease; protein; cancer; overexpression; identification; transformation; malignancies (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
  • [CC5A28AF882F]
http://linked.open...i/riv/nazevZdroje
  • Gene
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 447
http://linked.open...iv/tvurceVysledku
  • Seemanová, Eva
  • Lins, S.
  • Kruger, L.
  • Chrzanowska, KH
  • Digweed, M.
  • Kim, R.
http://linked.open...ain/vavai/riv/wos
  • 000270527200002
issn
  • 0378-1119
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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