Laddar...
Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations
The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm (“...
Sparad:
| I publikationen: | Genes (Basel) |
|---|---|
| Huvudupphovsmän: | , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
MDPI
2016
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5192486/ https://ncbi.nlm.nih.gov/pubmed/27916885 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes7120110 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|