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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Am J Med Genet A
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley & Sons, Inc. 2019
Aiheet:
Original Articles
Linkit: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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