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Updated: Jun 21, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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Published on: December 1, 2017

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在初级家族性脑化中小血管疾病与新型截断PDGFB变体

Maha Yektay Farahmand1,2, Johan Wasselius3, Elisabet Englund4

  • 1Division of Neurology, Department for Clinical Sciences, Lund University, Lund, Sweden.

Neurologia i neurochirurgia polska
|December 29, 2023
PubMed
概括

与PDGFB基因变异相关的初级家族性大脑化 (PFBC) 导致大脑化和白质超强度. 这些变体可以导致中风或TIA,表明PDGFB相关的小血管疾病影响大脑但不影响皮肤.

关键词:
在人数615483的孟德尔遗传.这就是TIA.大脑小血管疾病是大脑小血管疾病.遗传性疾病 遗传性疾病异常发病的基底腺结石化-5-5微型出血的情况一次性中风中风中风中风中风

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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