葡萄糖酶变体的功能性表征,以帮助对单一性糖尿病的临床解释

Varsha Rajesh1, Dora Evelyn Ibarra1,2, Jing Yang1

  • 1Department of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA 94305, USA.

概括

葡萄糖酶 (GCK) 基因变异的功能分析改善了单一性糖尿病的诊断. 这项研究有助于对遗传变异进行分类,从而对这种罕见的糖尿病形式进行更精确的诊断和更好的患者护理.

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