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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation

Mizuguchi, T; Toyota, T; Koshimizu, E; Kameyama, S; Fukuda, H; Tsuchida, N; Uchiyama, Y; Hamanaka, K; Fujita, A; Misawa, K; Miyatake, S; Adachi, H; Matsumoto, N

Mizuguchi, T; Matsumoto, N (通讯作者),Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama 2360004, Japan.

JOURNAL OF HUMAN GENETICS, 2023; 68 (12): 875

Abstract

Benign adult familial myoclonic epilepsy type 1 (BAFME1) is an autosomal dominant, adult-onset neurological disease caused by SAMD12 repeat expansion.......

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