About: Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes     Goto   Sponge   NotDistinct   Permalink

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Description
  • X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childh
  • X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childh (en)
  • Popis rozsáhlé delece na X chromozomu, která vysvětluje komplexní mnohočetná postižení u pacientů s Brutonovou agamagloublinémií (cs)
Title
  • Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
  • Kontinuální delece zahrnující geny BTK, TIMM8A, TAF7L a DRP2 (cs)
  • Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes (en)
skos:prefLabel
  • Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
  • Kontinuální delece zahrnující geny BTK, TIMM8A, TAF7L a DRP2 (cs)
  • Contiguous x-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes (en)
skos:notation
  • RIV/00064203:_____/07:1587!RIV08-MSM-00064203
http://linked.open.../vavai/riv/strany
  • 640-646
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(1M0520), Z(MSM0021620812)
http://linked.open...iv/cisloPeriodika
  • 6
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
  • 414923
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/07:1587
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • X-linked agammaglobulinemia (XLA); Bruton tyrosine kinase (BTK); Mohr-Tranebjaerg syndrome; immunodeficiency; sensorineural deafness; recessive deafness syndrome; brutons tyrosine kinase; linked agammaglobulinemia; mental deficiency; ddp1/timm8a-timm13 complex; dystonia syndrome; ddp gene; mutation; family; expression (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [F124C3999CE4]
http://linked.open...i/riv/nazevZdroje
  • Journal of Clinical Immunology
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
  • 27
http://linked.open...iv/tvurceVysledku
  • Janda, Aleš
  • Šedivá, Anna
http://linked.open...n/vavai/riv/zamer
issn
  • 0271-9142
number of pages
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