Maintenance: On Thursday, June 28 2018, 18:00-18:15, maintenance work on the ZORA servers is scheduled. ZORA will not be available during this period. Thank you for your patience.
Klaus, V; Vermeulen, T; Minassian, B; Israelian, N; Engel, K; Lund, A M; Roebrock, K; Christensen, E; Häberle, J (2009). Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? Clinical Genetics, 76(3):263-269.