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案例报告:婴儿GM1化症的植入前遗传测试

Valeria A Zagaynova1, Yulia A Nasykhova1, Ziravard N Tonyan1

  • 1D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint-Petersburg, Russia.

Frontiers in genetics
|February 26, 2024
PubMed
概括

lioside-monosialic acid (GM1) liosidosis是一种罕见的遗传性疾病. 这项研究确定了GLB1基因的致病变体,并成功地使用单一性疾病 (PGT-M) 的植入前遗传测试来选择未受影响的胚胎进行健康的怀孕.

关键词:
GLB1 的意思是 GLB1.转基因1的质化症在PGT-M中.辅助生殖技术是一种辅助生殖技术.单种类型分析分析.在植入前进行遗传检测.罕见的疾病 罕见的疾病

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