Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.

We generated a knockout mouse model for guanidinoacetate N-methyltransferase (GAMT) deficiency (MIM 601240), the first discovered human creatine deficiency syndrome, by gene targeting in embryonic stem cells. Disruption of the open reading frame of the murine GAMT gene in the first exon resulted in...

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Détails bibliographiques
Auteurs principaux: Schmidt, A, Marescau, B, Boehm, E, Renema, W, Peco, R, Das, A, Steinfeld, R, Chan, S, Wallis, J, Davidoff, M, Ullrich, K, Waldschütz, R, Heerschap, A, De Deyn, P, Neubauer, S, Isbrandt, D
Format: Journal article
Langue:English
Publié: 2004

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