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Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis.

Hailan HeXiaoshuang CaoFang HeWen ZhangXiaole WangPan PengChangning XieFei YinDengfeng LiJia-Da LiMinghui WangMalte KlüssendorfThomas J JentschTobias StauberJing Peng
Published in: Annals of neurology (2024)
countertransport in the E200A mutant has a dominant effect on the autophagic/lysosomal pathway. ANN NEUROL 2024.
Keyphrases
  • cell death
  • genome wide
  • copy number
  • neural network
  • gene expression
  • subarachnoid hemorrhage