- Tytuł:
-
Pathogenic Variants in USH1G /SANS Alter Protein Interaction with Pre-
RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. - Autorzy:
- Źródło:
- International journal of molecular sciences [Int J Mol Sci] 2023 Dec 18; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 18.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
RNA Splicing Factors*/geneticsRNA Splicing Factors*/metabolism
Spliceosomes*/metabolism
Usher Syndromes*
Humans ; Eye Proteins/metabolism ; Nerve Tissue Proteins/metabolism ; Ribonucleoprotein, U4-U6 Small Nuclear/metabolism ;RNA Precursors/genetics ;RNA Splicing ; Transcription Factors/metabolism ; HEK293 Cells - SCR Disease Name:
- Usher Syndrome, Type IG
Czasopismo naukowe