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Updated: Jul 19, 2025

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在四代BAFME1家族中完成SAMD12重复扩张序列,并预测其存在

Takeshi Mizuguchi1, Tomoko Toyota2, Eriko Koshimizu3

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. tmizu@yokohama-cu.ac.jp.

Journal of human genetics
|August 17, 2023
PubMed
概括

良性成年家族肌性1型 (BAFME1) 涉及SAMD12的重复扩张. 这项研究发现,虽然重复扩张发生在几代人之间,但其他因素可能会影响BAFME1家族早期发作的预期.

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