Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Thr268Met (p.T268M)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Thr268Met (p.T268M) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- myotonia congenita
- Source Database
- DisGeNET
- Description
- We engineered a ribozyme that targets the mRNA of a mutant canine skeletal muscle chloride channel (cClC-1) (mutation T268M in ClC-1 causing myotonia congenita) and replaces the mutant-containing 3' portion by trans-splicing the corresponding 4-kb wild-type sequence.
- Pubmed
- 12488428
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.387922294040807
- Year of publication
- 2002
Drugs