Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1471-2350
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants ; volume:19 ; number:1 ; day:8 ; month:2 ; year:2018 ; pages:1-6 ; date:12.2018
BMC medical genetics ; 19, Heft 1 (8.2.2018), 1-6, 12.2018

Keyword
Erbkrankheit
Erbschaden

Creator
Gao, Zhijie
Contributor
Xie, Hua
Jiang, Qian
Wu, Nan
Chen, Xiaoli
Chen, Qian
SpringerLink (Online service)

DOI
10.1186/s12881-018-0535-7
URN
urn:nbn:de:1111-201804157382
Rights
Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
13.06.20500, 7:09 AM CEST

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Associated

  • Gao, Zhijie
  • Xie, Hua
  • Jiang, Qian
  • Wu, Nan
  • Chen, Xiaoli
  • Chen, Qian
  • SpringerLink (Online service)

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