Skip to content
VuFind
    • English
    • Deutsch
    • Español
    • Français
    • Italiano
    • 日本語
    • Nederlands
    • Português
    • Português (Brasil)
    • 中文(简体)
    • 中文(繁體)
    • Türkçe
    • עברית
    • Gaeilge
    • Cymraeg
    • Ελληνικά
    • Català
    • Euskara
    • Русский
    • Čeština
    • Suomi
    • Svenska
    • polski
    • Dansk
    • slovenščina
    • اللغة العربية
    • বাংলা
    • Galego
    • Tiếng Việt
    • Hrvatski
    • हिंदी
    • Հայերէն
    • Українська
    • Sámegiella
    • Монгол
Advanced
  • Next-generation sequencing cor...
  • Cite this
  • Text this
  • Email this
  • Print
  • Export Record
    • Export to RefWorks
    • Export to EndNoteWeb
    • Export to EndNote
  • Permanent link
Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

Bibliographic Details
Main Authors: Nataniel Floriano Ludwig, Fernanda Sperb-Ludwig, Renata Voltolini Velho, Ida Vanessa D. Schwartz
Format: Article
Language:English
Published: Elsevier 2017-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucolipidosis III gamma
Next-generation sequencing
De novo alteration
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300204
  • Holdings
  • Description
  • Similar Items
  • Staff View

Internet

http://www.sciencedirect.com/science/article/pii/S2214426917300204

Similar Items

  • In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
    by: Fernanda Sperb-Ludwig, et al.
    Published: (2023-12-01)
  • Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
    by: Abdelali Zrhidri, et al.
    Published: (2017-09-01)
  • [PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
    by: Fernanda Sperb-Ludwig, et al.
  • A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
    by: Nataniel F Ludwig, et al.
    Published: (2021-04-01)
  • Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
    by: F. Sperb-Ludwig, et al.
    Published: (2015-03-01)

Search Options

  • Search History
  • Advanced Search

Find More

  • Browse the Catalog
  • Browse Alphabetically
  • Explore Channels
  • Course Reserves
  • New Items

Need Help?

  • Search Tips
  • Ask a Librarian
  • FAQs