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[해외논문] The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder 원문보기

Molecular genetics and metabolism, v.111 no.4, 2014년, pp.522 - 532  

Hiebler, S. ,  Masuda, T. ,  Hacia, J.G. ,  Moser, A.B. ,  Faust, P.L. ,  Liu, A. ,  Chowdhury, N. ,  Huang, N. ,  Lauer, A. ,  Bennett, J. ,  Watkins, P.A. ,  Zack, D.J. ,  Braverman, N.E. ,  Raymond, G.V. ,  Steinberg, S.J.

Abstract AI-Helper 아이콘AI-Helper

Zellweger spectrum disorder (ZSD) is a disease continuum that results from inherited defects in PEX genes essential for normal peroxisome assembly. These autosomal recessive disorders impact brain development and also cause postnatal liver, adrenal, and kidney dysfunction, as well as loss of vision ...

Keyword

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