Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Journal of Medical Genetics

Volumn 50, Issue 11, 2013, Pages 754-759

  Nota, Benjamin ^a   Hamilton, Eline M ^a   Sie, Daoud ^a   Ozturk, Senay ^a   van Dooren, Silvy J M ^a   Fernandez Ojeda, Matilde R ^a   Jakobs, Cornelis ^a   Christensen, Ernst ^b   Kirk, Edwin P ^c   Sykut Cegielska, Jolanta ^d   Lund, Allan M ^b   van der Knaap, Marjo S ^a,e   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Mental Health Services CPH   (Denmark)

^c SYDNEY CHILDREN'S HOSPITAL   (Australia)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; DNA; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2;

ACIDURIA; ALLELE; AMPLICON; ARTICLE; CASE REPORT; CELL CULTURE; CHILD; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HYDROXYGLUTARIC ACIDURIA; MOLECULAR CLONING; MOSAICISM; PRIORITY JOURNAL; SCHOOL CHILD;

2-HYDROXYGLUTARATE; CANCER; INBORN ERROR OF METABOLISM; MOSAICISM; NEUROMETABOLIC DISORDER;

BRAIN DISEASES, METABOLIC, INBORN; CELLS, CULTURED; CHILD; FEMALE; GENE FREQUENCY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; ISOCITRATE DEHYDROGENASE; MALE; MOSAICISM; MUTATION; PARENTS;

EID: 84890228415     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101961     Document Type: Article

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