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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 (“...

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Publicado en:Genes (Basel)
Main Authors: Macpherson, James N., Murray, Anna
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2016
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Acceso en liña: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
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