Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

S. Mahmutoglu, J.D.T. Ndika, W. Kanhai, T.B. de Villemeur, D. Cheillan, E. Christensen, N. Dorison, V. Hannig, Y.M.C. Hendriks, F.C. Hofstede, L. Lion-Francois, A.M. Lund, H. Mundy, G. Pitelet, M. Raspall-Chaure, J.A. Scott-Schwoerer, K. Szakszon, V. Valayannopoulos, M. Williams, G.S. Salomons

Research output: Contribution to journalArticleAcademicpeer-review

38 Citations (Scopus)
Original languageEnglish
Pages (from-to)462-469
JournalHuman mutation
Issue number4
Publication statusPublished - 2014

Cite this