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1. A GPHN point mutation leading to molybdenum cofactor deficiency.

Author

Reiss, J, Lenz, U, Aquaviva-Bourdain, C, Joriot-Chekaf, S, Mention-Mulliez, K, and Holder-Espinasse, M

Subjects
LETTERS to the editor, GENETIC mutation, METABOLIC disorders
Abstract

A letter to the editor is presented regarding a patient with molybdenum cofactor deficiency (MoCoD) caused by human gephyrin gene (GPHN) point mutation.

Published
2011
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