Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marc daCosta"'
Autor:
Paul C. Evans, Marc daCosta, Timothy J. A. Chico, Jovana Serbanovic-Canic, Julie Lees, Caroline Gray, Henry Roehl, Karen Plant, Sara Solaymani-Kohal, D C Crossman, Bernard Keavney, Andrea Haase, David G. Bratt, Simon Tazzyman, Martin Gering, Kathryn McMahon, Oliver Watson
Publikováno v:
Arteriosclerosis, Thrombosis, and Vascular Biology. 33:1257-1263
Objective— Coarctation of the aorta is rarely associated with known gene defects. Blomstrand chondrodysplasia, caused by mutations in the parathyroid hormone receptor 1 (PTHR1) is associated with coarctation of the aorta in some cases, although it
Autor:
Marc DaCosta, Hai Hoang Bui, Mike O'Neill, Yu-Chia Chen, Aswin Menke, Marcus Keatinge, Oliver Bandmann
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 86:e4.46-e4
ObjectivesTo establish and characterise glucocerebrosidase 1 (GBA1) mutant zebrafish line.BackgroundHomozygous GBA1 mutations (GBA1−/−) cause Gaucher disease (GD), heterozygote GBA1 mutations (GBA+/−) are the most common risk factor for Parkins