DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1082-1087

  Danhauser, Katharina ^a,b   Sauer, Sven W ^c   Haack, Tobias B ^a,b   Wieland, Thomas ^b   Staufner, Christian ^c   Graf, Elisabeth ^b   Zschocke, Johannes ^d   Strom, Tim M ^a,b   Traub, Thorsten ^c   Okun, Jürgen G ^c   Meitinger, Thomas ^a,b   Hoffmann, Georg F ^c   Prokisch, Holger ^a,b   Kölker, Stefan ^c  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

2 AMINOADIPIC ACID; 2 OXOADIPIC ACID; ADIPIC ACID DERIVATIVE; BIOLOGICAL MARKER; DEHYDROGENASE E1 AND TRANSKETOLASE DOMAIN CONTAINING PROTEIN 1; DEUTERIUM; GLUTARYL COENZYME A DEHYDROGENASE; METHIONINE; OXOGLUTARATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; CASE REPORT; CHILD; DECARBOXYLATION; EXOME; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; SEQUENCE ANALYSIS;

2-AMINOADIPIC ACID; ADIPATES; ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; EXONS; FEMALE; FIBROBLASTS; GENE ORDER; GENOTYPE; HUMANS; KETONE OXIDOREDUCTASES; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84870934078     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.006     Document Type: Article

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