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Paper Details

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
17
2021
-, COPB2, COPB2 deficiency, COPB2 haploinsufficiency, COPB2-deficient, COPI, COPI complex, Coatomer complexes, Copb2, Copb2+/-, Copb2+/- mouse fibroblasts, Golgi defect, ascorbic acid, coatomer complex I, coatomer subunits, coatopathies, coatopathy, collagen, copb2, copb2-, developmental delay, fibroblasts, fractures, human, human cells, larval lethality, mice, mouse, multi-systemic disorders, osteoporosis, treated, type I collagen, type II collagen, zebrafish
Author NameAffiliation
Aurélie ClémentInstitute of Neuroscience, University of Oregon
Bernardo Blanco-SánchezInstitute of Neuroscience, University of Oregon
Vernon R SuttonBaylor College of Medicine, USA Texas Children's Hospital
Ghayda M MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute, University of Washington, and Brotman Baty Institute for Precision Medicine
Neil A HanchardBaylor College of Medicine, USA Texas Children's Hospital, ARS/USDA Children's Nutrition Research Center
Jennifer B PhillipsInstitute of Neuroscience, University of Oregon
Jeremy WegnerInstitute of Neuroscience, University of Oregon
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Anne M DickinsonBaylor College of Medicine
Anne M DickinsonBaylor College of Medicine
John R SeavittBaylor College of Medicine
Monte WesterfieldInstitute of Neuroscience, University of Oregon
Monte WesterfieldInstitute of Neuroscience, University of Oregon
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