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一眼看:最大的尼曼·皮克型C1队列,有602名患者在15年内被诊断出患病

Pilar Guatibonza Moreno1, Luba M Pardo1, Catarina Pereira1

  • 1CENTOGENE GmbH, Rostock, Germany.

European journal of human genetics : EJHG
|July 11, 2023
PubMed
概括

这项研究分析了602名尼曼-皮克型C1疾病 (NPC1) 患者的遗传和临床数据,确定了新的变异和基因型-表型相关性. 研究结果揭示了生物标志物PPCS在评估NPC1疾病严重程度和进展中的实用性.

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