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Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency

โœ Scribed by J. A. CUTLER; R. PATEL; S. RANGARAJAN; R. C. TAIT; M. J. MITCHELL

Book ID
108775558
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
258 KB
Volume
16
Category
Article
ISSN
1351-8216

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## Communicated by Mark H. Paalman Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far, six mutation