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
  • The retinal phenotype associat...
  • Cite this
  • Text this
  • Email this
  • Print
  • Export Record
    • Export to RefWorks
    • Export to EndNoteWeb
    • Export to EndNote
  • Permanent link
The retinal phenotype associated with the frequent, synonymous c.783G > A mutation in CDHR1

The retinal phenotype associated with the frequent, synonymous c.783G > A mutation in CDHR1

Bibliographic Details
Main Authors: Yusuf, IH, Gliem, M, Birtel, J, Muller, PL, Mangold, E, Bolz, H, Issa, PC
Format: Conference item
Language:English
Published: Association for Research in Vision and Ophthalmology 2018
  • Holdings
  • Description
  • Similar Items
  • Staff View

Similar Items

  • A specific macula-predominant retinal phenotype is associated with the CDHR1 variant c.783G>A, a silent mutation leading to in-frame exon skipping
    by: Charbel Issa, P, et al.
    Published: (2019)
  • CDHR1 mutations in retinal dystrophies
    by: Katarina Stingl, et al.
    Published: (2017-08-01)
  • Deep phenotyping of the Cdhr1−/− mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration
    by: Yusuf, I, et al.
    Published: (2021)
  • CDHR1-related late-onset macular dystrophy: further insights
    by: Yusuf, IH, et al.
    Published: (2020)
  • Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
    by: Johannes Birtel, et al.
    Published: (2018-01-01)

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