About: The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension     Goto   Sponge   NotDistinct   Permalink

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Description
  • Von Hippel-Lindau (VHL) protein is the principal negative regulator of hypoxia sensing mediated by transcription factors. Mutations in exon 3 of the VHL gene lead to Chuvash and Croatian polycythemias. Here, we describe an infant of Bangladesh ethnicity with a novel homozygous VHL(D126N) mutation with congenital polycythemia and dramatically elevated erythropoietin (EPO) levels, who developed severe fatal pulmonary hypertension.
  • Von Hippel-Lindau (VHL) protein is the principal negative regulator of hypoxia sensing mediated by transcription factors. Mutations in exon 3 of the VHL gene lead to Chuvash and Croatian polycythemias. Here, we describe an infant of Bangladesh ethnicity with a novel homozygous VHL(D126N) mutation with congenital polycythemia and dramatically elevated erythropoietin (EPO) levels, who developed severe fatal pulmonary hypertension. (en)
Title
  • The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension
  • The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension (en)
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  • The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension
  • The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension (en)
skos:notation
  • RIV/61989592:15110/14:33149926!RIV15-MSM-15110___
http://linked.open...avai/riv/aktivita
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  • P(EE2.3.20.0164), P(EE2.3.30.0041)
http://linked.open...iv/cisloPeriodika
  • 11
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http://linked.open...aciTvurceVysledku
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  • 19669
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15110/14:33149926
http://linked.open...riv/jazykVysledku
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  • von Hippel-Lindau gene; pulmonary hypertension; polycythemia; erythropoietin (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [0E494BBEB191]
http://linked.open...i/riv/nazevZdroje
  • Pediatric Blood & Cancer
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http://linked.open...ichTvurcuVysledku
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  • 61
http://linked.open...iv/tvurceVysledku
  • Kapraľová, Katarína
  • Láníková, Lucie
  • Acharya, S.
  • Lipton, Jm
  • Prchal, Jt
  • Sarangi, S.
  • Swierczek, S.
  • Wolfe, L.
http://linked.open...ain/vavai/riv/wos
  • 000342723300040
issn
  • 1545-5017
number of pages
http://bibframe.org/vocab/doi
  • 10.1002/pbc.25056
http://localhost/t...ganizacniJednotka
  • 15110
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