Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Autor: Talia Hartley, Machteld M. Oud, Paul Tuijnenburg, Chela James, Hywel Williams, Taco W. Kuijpers, Machiel H. Jansen, Hans G. Brunner, Maja Hempel, Rui Li, Louise Ocaka, Polona Le Quesne Stabej, PL Beales, Catherine M. Cale, Steven T. Pals, Ronald J.A. Wanders, Zemin Ren, Naomi van Vlies, Davor Lessel, Heleen H. Arts, Rosalind Jane Davies, Christine Hall, Patricia Dias, Lucie Dupuis, Sacha Ferdinandusse, Tim M. Strom, E. Graham Davies, Chiara Bacchelli, Hartmut Engels, Jan-Maarten Cobben, René Santer, Jessika Johannsen, Marielle Alders, Sérgio B. Sousa, Ronald Roepman, Roberto Mendoza-Londono, Ingo Müller, Kai Lehmberg

Publikováno v: American journal of human genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100, 281-296
American Journal of Human Genetics, 100, 2, pp. 281-296
Am. J. Hum. Genet. 100, 281-296 (2017)

Contains fulltext : 169755.pdf (Publisher’s version ) (Open Access) EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b8b33f3e0c38cbbf870985c97c9fed
https://doi.org/10.1016/j.ajhg.2017.01.013