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

Author:

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

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

January 2001

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