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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 07 26; 3(14).
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PubMed
subject areas
Apoptosis
Basic-Leucine Zipper Transcription Factors
Bone Diseases, Developmental
Cell Culture Techniques
Child, Preschool
Chondrocytes
Collagen
Endoplasmic Reticulum
Female
Gene Knockdown Techniques
Genetic Diseases, Inborn
Golgi Apparatus
Homeostasis
Humans
Lipogenesis
Lysosomes
Mannosephosphates
Mutation
Proprotein Convertases
Protein Transport
Serine Endopeptidases
authors with profiles
Christopher M Hoover
Courtney T Griffin
Patrick Gaffney
Judith A James
Lijun Xia