Disease‐causing Missense Mutations Within the N‐terminal Transmembrane Domain of GlcNAc‐1‐phosphotransferase Impair Endoplasmic Reticulum Translocation or Golgi Retention

Wang-Sik Lee,Benjamin C. Jennings,Balraj Doray,Stuart Kornfeld

Human mutation（2020）

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关键词
ER translocation,GlcNAc-1-phosphotransferase,Golgi retention,mucolipidosis II,mucolipidosis III alpha beta,transmembrane domain
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