المؤلفون: Shan Chen, Yi-Chien Lee, Bernardo Blanco-Sánchez, Nitesh R. Mehta, Xiaohui Li, Brendan Lee, Catherine DeVile, Jill A. Rosenfeld, Daryl A. Scott, Ming-Ming Jiang, V. Reid Sutton, I-Wen Song, Kyu Sang Joeng, Rossella Venditti, Yuqing Chen, Richard A. Gibbs, John Hicks, Alistair Calder, Ghayda Mirzaa, David R. Murdock, Jeremy Wegner, Gladys Zapata, Tashunka Taylor-Miller, David R. Eyre, Aurélie Clément, Brian Dawson, Joseph M. Sliepka, Jason D. Heaney, Marwan Shinawi, Shalini N. Jhangiani, Donna M. Muzny, Dominyka Batkovskyte, Lisa Emrick, John R. Seavitt, Ronit Marom, Brenna A. Tremp, Maria Antonietta De Matteis, Zixue Jin, Lindsay C. Burrage, Denise G. Lanza, Monte Westerfield, Jeremy Allgrove, Rolf W. Stottmann, Jennifer B. Phillips, Rowenna Roberts, Abbey A. Scott, Neil A. Hanchard, Mahim Jain, Megan Washington, Alyssa A. Tran, Mary E. Dickinson, Ingo Grafe, MaryAnn Weis

المساهمون: Marom, R., Burrage, L. C., Venditti, R., Clement, A., Blanco-Sanchez, B., Jain, M., Scott, D. A., Rosenfeld, J. A., Sutton, V. R., Shinawi, M., Mirzaa, G., Devile, C., Roberts, R., Calder, A. D., Allgrove, J., Grafe, I., Lanza, D. G., Li, X., Joeng, K. S., Lee, Y. -C., Song, I. -W., Sliepka, J. M., Batkovskyte, D., Washington, M., Dawson, B. C., Jin, Z., Jiang, M. -M., Chen, S., Chen, Y., Tran, A. A., Emrick, L. T., Murdock, D. R., Hanchard, N. A., Zapata, G. E., Mehta, N. R., Weis, M. A., Scott, A. A., Tremp, B. A., Phillips, J. B., Wegner, J., Taylor-Miller, T., Gibbs, R. A., Muzny, D. M., Jhangiani, S. N., Hicks, J., Stottmann, R. W., Dickinson, M. E., Seavitt, J. R., Heaney, J. D., Eyre, D. R., Westerfield, M., De Matteis, M. A., Lee, B.

المصدر: Am J Hum Genet.
Am J Hum Genet

مصطلحات موضوعية: Male, Embryo, Nonmammalian, Developmental Disabilities, Golgi Apparatus, Ascorbic Acid, Haploinsufficiency, Endoplasmic Reticulum, Coatomer Protein, Severity of Illness Index, Bone and Bones, Collagen Type I, Article, Coat Protein Complex I, Mice, symbols.namesake, Intellectual Disability, Genetics, Animals, Humans, COPI complex, RNA, Small Interfering, Child, Zebrafish, Genetics (clinical), Chemistry, Endoplasmic reticulum, collagen trafficking, Brain, Gene Expression Regulation, Developmental, COPB2, juvenile osteoporosis, COPI, Fibroblasts, Golgi apparatus, Ascorbic acid, Cell biology, Coatomer, Child, Preschool, Unfolded protein response, symbols, Osteoporosis, coatopathy, Female, Type I collagen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf0ae90b2f705d325cc4cd87eaefd7de