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Updated: Jan 14, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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转基因2 性症 AB 变体:一个隐藏的真相

Inês Noites1, Ana Sofia Coelho2,3, Catarina Magalhães4

  • 1Department of Pediatrics, Hospital do Divino Espírito Santo de Ponta Delgada, Ponta Delgada, PRT.

Cureus
|October 20, 2025
PubMed
概括

转基因2化症AB变体 (GM2AB) 是一种罕见的神经退行性疾病. 本案例报告详细介绍了第一个通过死后遗传测序诊断的葡萄牙患者,强调了类似疾病的诊断考虑因素.

关键词:
缺少gm2激活蛋白质的情况gm2 liosidosis 的 ab 变体gm2a基因是一种基因.lysosomal 储存疾病 lysosomal 储存疾病神经退行症的神经退行症

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Glucose Transporters01:27

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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