将KIF1A依赖性疾病的知识扩展到一组波兰患者身上

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Updated: Jul 29, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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Justyna Paprocka1, Aleksandra Jezela-Stanek2, Robert Śmigiel3

  • 1Department of Pediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, 40-752 Katowice, Poland.

Genes
|May 27, 2023
PubMed
概括

KIF1A变体会导致各种神经系统疾病. 这项研究在波兰患者中发现了三种新的KIF1A变异,突出了由于重叠症状导致的诊断挑战.

关键词:
在HSN2C中,它是HSN2C.KIF1A 如果1A这是NESCAVAV.在SPG30中,SPG30是SPG30中的一个.孩子们的孩子们的孩子们的孩子们神经退行症的神经退行症

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