Characterization of seven novel mutations in seven patients with GAMT deficiency.

Human mutation

Volumn 23, Issue 5, 2004, Pages 524-

  Item, C B ^a   Mercimek Mahmutoglu, S ^a   Battini, R ^a   Edlinger Horvat, C ^a   Stromberger, C ^a   Bodamer, O ^a   Muhl A ^a   Vilaseca, M A ^a   Korall, H ^a   Stockler Ipsiroglu S ^a  

^a UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GAMT PROTEIN, HUMAN; GUANIDINOACETATE METHYLTRANSFERASE; METHYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; COMPARATIVE STUDY; EXON; FEMALE; GENETICS; HUMAN; INTRON; MALE; MUTATION; NUCLEOTIDE SEQUENCE; NUTRITIONAL DEFICIENCY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEFICIENCY DISEASES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INTRONS; MALE; METHYLTRANSFERASES; MUTATION;

MLCS; MLOWN;

EID: 4444319288     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9238     Document Type: Article

References (0)