About: Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
Description
  • DNA diagnosis inside of the group of neuronal ceroid lipofuscinoses of the variant late infantile type with special emphasize to newly defined CLN7 form.
  • DNA diagnosis inside of the group of neuronal ceroid lipofuscinoses of the variant late infantile type with special emphasize to newly defined CLN7 form. (en)
Title
  • Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
  • Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (en)
skos:prefLabel
  • Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
  • Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (en)
skos:notation
  • RIV/00216208:11110/09:4043!RIV10-MZ0-11110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR8351), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • Part 3
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
  • 328101
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11110/09:4043
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • CLN7; MFSD8; mutations; neuronal ceroid lipofuscinosis; mutations (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [C6826BC62E36]
http://linked.open...i/riv/nazevZdroje
  • Brain
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
  • 132
http://linked.open...iv/tvurceVysledku
  • Elleder, Milan
  • Kousi, Maria
  • Dvořáková, Lenka
  • Vlášková, Hana
  • Lehesjoki, AE
  • Gokben, S.
  • Minassian, BA
  • Mole, SE
  • Siintola, E.
  • Topcu, M.
  • Turnbull, J.
  • Yuksel, D.
http://linked.open...ain/vavai/riv/wos
  • 000264889000024
http://linked.open...n/vavai/riv/zamer
issn
  • 0006-8950
number of pages
http://localhost/t...ganizacniJednotka
  • 11110
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 77 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software