L-2-hydroxyglutaric aciduria: Characterisation of the molecular defect in a spontaneous canine model

Journal of Medical Genetics

Volumn 44, Issue 5, 2007, Pages 334-340

  Penderis, Jacques ^a   Calvin, Jacqui ^c   Abramson, Carley ^b   Jakobs, Cornelis ^d   Pettitt, Louise ^b   Binns, Matthew M ^b   Verhoeven, Nanda M ^d   O'Driscoll, Eamonn ^c   Platt, Simon R ^b   Mellersh, Cathryn S ^b  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b ANIMAL HEALTH TRUST   (United Kingdom)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID DERIVATIVE; LEVO 2 HYDROXYGLUTARIC ACID DEHYDROGENASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CEREBROSPINAL FLUID; CHROMOSOME 14Q; CONTROLLED STUDY; DNA FLANKING REGION; DNA SEQUENCE; DOG; ENZYMURIA; GENE MUTATION; HOMOZYGOSITY; LEVO 2 HYDROXYGLUTARIC ACIDURIA; NEUROLOGIC DISEASE; NONHUMAN; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; URINALYSIS;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ANIMALS; BASE PAIRING; BASE SEQUENCE; BRAIN; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; DOG DISEASES; DOGS; EXONS; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HETEROZYGOTE; HOMOZYGOTE; MAGNETIC RESONANCE IMAGING; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

CANIS FAMILIARIS;

EID: 34248352194     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.042507     Document Type: Article

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