Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the B...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Yeetong, Patra, Chunharas, Chaipat, Pongpanich, Monnat, Bennett, Mark F., Srichomthong, Chalurmpon, Pasutharnchat, Nath, Suphapeetiporn, Kanya, Bahlo, Melanie, Shotelersuk, Vorasuk
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2020
Témata:
Brief Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7868360/
https://ncbi.nlm.nih.gov/pubmed/32973343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00729-1
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