Two new severe mutations causing guanidinoacetate methyltransferase deficiency

Molecular Genetics and Metabolism

Volumn 71, Issue 4, 2000, Pages 633-638

  Carducci, Carla ^a   Leuzzi, Vincenzo ^a   Carducci, Claudia ^a   Prudente, Sabrina ^a   Mercuri, Luana ^a   Antonozzi, Italo ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Creatine; Guanidinoacetate methyltransferase deficiency; Guanidinoacetic acid; Inborn error of creatine metabolism; Mutation

Indexed keywords

GUANIDINOACETIC ACID; METHYLTRANSFERASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; ENZYME DEFICIENCY; EPILEPSY; EXON; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MALE; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA DEGRADATION; SEQUENCE ANALYSIS; STOP CODON;

EID: 0034526418     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3108     Document Type: Article

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