bibliographicCitation |
Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G. A Mutation in the Gene for the Neurotransmitter Receptor–Clustering Protein Gephyrin Causes a Novel Form of Molybdenum Cofactor Deficiency. The American Journal of Human Genetics. 2001 Jan;68(1):208–13. doi: 10.1086/316941. |