Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

Instability of the FMR1 repeat, commonly observed in transmissions of premutation alleles (55–200 repeats), is influenced by the size of the repeat, its internal structure and the sex of the transmitting parent. We assessed these three factors in unstable transmissions of 14/3,335 normal (~5 to 44 r...

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Detalles Bibliográficos
Publicado en:Am J Med Genet A
Main Authors: Nolin, Sarah L., Glicksman, Anne, Tortora, Nicole, Allen, Emily, Macpherson, James, Mila, Montserrat, Vianna‐Morgante, Angela M., Sherman, Stephanie L., Dobkin, Carl, Latham, Gary J., Hadd, Andrew G.
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons, Inc. 2019
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6619443/
https://ncbi.nlm.nih.gov/pubmed/31050164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61165
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