Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 328-334

  Item, C B ^a   Stockler Ipsiroglu S ^a   Willheim, C ^b   Muhl A ^a   Bodamer, O A ^a  

^a ST ANNA CHILDREN S HOSPITAL   (Austria)

^b UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

Author keywords

Analysis; Creatine; Guanidinoacetate; Molecular; Mutation

Indexed keywords

GUANIDINOACETATE METHYLTRANSFERASE; METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; ENZYME DEFICIENCY; GENE AMPLIFICATION; GENE SEQUENCE; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; GUANIDINOACETATE N-METHYLTRANSFERASE; MUTATION; NUCLEIC ACID DENATURATION; NUCLEIC ACID HETERODUPLEXES; POLYMERASE CHAIN REACTION;

EID: 26244454610     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.05.010     Document Type: Article

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