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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley & Sons, Inc. 2019
Gaiak:
Original Articles
Sarrera elektronikoa: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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