Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and …
Established
25
Citations85
Refs2002
Year
Search Works
Work Details
- DOI 10.1002/jemt.10066
- PMID https://pubmed.ncbi.nlm.nih.gov/12112448
- OpenAlex ID W2121448522
- Type Review
- Language EN
- Published 18 Apr 2002
- Volume 57 (3)
- Pages 135–144
- Source Microscopy Research and Technique
- Publisher Wiley
- FWCI 0.04
- Countries 1
- Institutions 3
- Added 24 Jun 2016
- Updated 28 Oct 2026
External Links
MENU
0
Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets
Review 2002 EN Bronze
Fragile X syndrome (FraX) is one of the most prevalent genetic causes of mental retardation. FraX is associated with an unstable expansion of a polymorphism within the 5' untranslated region of the FMR1 gene. The main consequence of this mutation is a reduction in the levels of the gene product (FMRP). FMRP is an RNA-binding protein with multiple spliced variants (isoforms) and high levels of expr…
25
Citations
85
References
4
Authors
0.04
FWCI
Citations by Year
Last 11 yearsTopics
Keywords
UN Sustainable Development Goals
1 SDGsAuthors & Affiliations
4 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Walter E. Kaufmann Corresponding | Kennedy Krieger Institute (US) Johns Hopkins University (US) +1 | |
| 2 | Sonia Cohen | Kennedy Krieger Institute (US) | |
| 3 | Hongtao Sun | Kennedy Krieger Institute (US) Johns Hopkins University (US) +1 | |
| 4 | George Ho | Johns Hopkins University (US) Johns Hopkins Medicine (US) | — |
Related Works
10Data: OpenAlex