A Mutation in the Gene for the Neurotransmitter Receptor–Clustering Protein Gephyrin Causes a Novel Form of Molybdenum Cofactor Deficiency

Jochen Reiss, Sigrid Gross-Hardt, Ernst Christensen, Peter J. Schmidt, Ralf R. Mendel, Günter Schwarz

The American Journal of Human Genetics · 2001 · 109 citations · 24 references

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