About: v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease     Goto   Sponge   NotDistinct   Permalink

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Description
  • The authors report a new 4 base insertion in exon 30 of COL1A1 gene in a Czech girl with an atypical phenotype of osteogenesis imperfecta syndrome type I.
  • The authors report a new 4 base insertion in exon 30 of COL1A1 gene in a Czech girl with an atypical phenotype of osteogenesis imperfecta syndrome type I. (en)
Title
  • v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease
  • v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease (en)
skos:prefLabel
  • v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease
  • v New collagen alpha 1 chain gene mutation in a Czech girl suffering from severe brittle bone disease (en)
skos:notation
  • RIV/00216208:11310/03:00001274!RIV/2004/MSM/113104/N
http://linked.open.../vavai/riv/strany
  • 118;118
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(LN00B107)
http://linked.open...iv/cisloPeriodika
  • 1 supp.
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
  • 632643
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11310/03:00001274
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • collagen;alpha;chain;mutation;Czech;suffering;severe;brittle;disease; (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [6F6394E7F5DD]
http://linked.open...i/riv/nazevZdroje
  • European Journal of Human Genetics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...ocetUcastnikuAkce
http://linked.open...nichUcastnikuAkce
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 11
http://linked.open...iv/tvurceVysledku
  • Mazura, Ivan
  • Mařík, Ivo
  • Maříková, Olga
issn
  • 1018-4813
number of pages
http://localhost/t...ganizacniJednotka
  • 11310
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