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    Biochim Biophys Acta. 1995 Dec 27;1264(3):265-7.

    Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.

    Isbrandt D, von Figura K.

    Source

    Georg-August-Universität, Abt. Biochemie II, Göttingen, Germany.

    Abstract

    In a child with severe muscular hypotonia and extrapyramidal movement disorder, elevation of guanidinoacetate and deficiency of creatine in brain suggested a defect in biosynthesis of creatine at the level of guanidinoacetate methyltransferase (GAMT) (Stöckler, S. et al. (1994) Pediatr. Res. 36, 409-413). As a first step in the molecular analysis of GAMT deficiency, the cDNA for human GAMT was cloned using rat GAMT cDNA as a probe. For the coding region there is a 82.5% homology of the nucleotide sequence and 86.9% homology of the deduced amino acid sequence between human and rat.

    PMID:
    8547310
    [PubMed - indexed for MEDLINE]

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