Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

Human Mutation

Volumn 35, Issue 4, 2014, Pages 462-469

  Mercimek Mahmutoglu, Saadet ^a,b   Ndika, Joseph ^b   Kanhai, Warsha ^b   de Villemeur, Thierry Billette ^c   Cheillan, David ^d   Christensen, Ernst ^e   Dorison, Nathalie ^c   Hannig, Vickie ^f   Hendriks, Yvonne ^b   Hofstede, Floris C ^g   Lion Francois, Laurence ^d   Lund, Allan M ^h   Mundy, Helen ⁱ   Pitelet, Gaele ^j   Raspall Chaure, Miquel ^k   Scott Schwoerer, Jessica A ^l   Szakszon, Katalin ^m   Valayannopoulos, Vassili ⁿ   Williams, Monique ^o   Salomons, Gajja S ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d HOSPICES CIVILS DE LYON   (France)

^e University of Copenhagen   (Denmark)

^f VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^h Department of Clinical Genetics   (Denmark)

ⁱ EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^j Department of Clinical Genetics Centre for Inherited Metabolic Diseases ^*  (France)

^k HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^l UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^m UNIVERSITY OF DEBRECEN   (Hungary)

ⁿ Reference Center of Metabolic Disease   (France)

^o ERASMUS MEDICAL CENTER   (Netherlands)

more..

Author keywords

GAMT; GAMT D; Missense variants; Site directed mutagenesis

Indexed keywords

GUANIDINOACETATE METHYLTRANSFERASE; GAMT PROTEIN, HUMAN;

ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; GENE; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; GUANIDINOACETATE METHYLTRANSFERASE GENE; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; QUESTIONNAIRE; ADOLESCENT; ADULT; CHILD; DEFICIENCY; DEVELOPMENTAL LANGUAGE DISORDER; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; MALE; METABOLISM; MOVEMENT DISORDERS; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; MOVEMENT DISORDERS; MUTATION, MISSENSE; QUESTIONNAIRES; YOUNG ADULT;

EID: 84896114525     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22511     Document Type: Article

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