The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

Abstract Background CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in CLN3 particularly determines onset and course of neurological deterioration. Given the highly conserved start codon code among eukaryo...

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Bibliographic Details
Main Authors: Willemijn F. E. Kuper, Claudia vanAlfen, Linda vanEck, Stella A. deMan, Marjolein H. Willemsen, Koen L. I. vanGassen, Monique Losekoot, Peter M. vanHasselt
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:JIMD Reports
Subjects:
CLN3
counseling
protracted phenotype
start codon
translation initiation codon
Online Access:https://doi.org/10.1002/jmd2.12097

Internet

https://doi.org/10.1002/jmd2.12097

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