Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency

Journal of Medical Genetics

Volumn 35, Issue 8, 1998, Pages 650-656

  Sjarif, D R ^a   Sinke, R J ^b   Duran, M ^a   Beemer, F A ^b   Kleijer, W J ^c   Van Ploos Amstel, J K ^b   Poll The, B T ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Clinical Genetics Center Utrecht   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Gene structure; Hyperketotic hypoglycaemia; Isolated glycerol kinase deficiency; Novel mutation

Indexed keywords

CARBON 14; GLYCEROL KINASE; TRICHLOROACETIC ACID;

ARTICLE; CHILD; CLINICAL ARTICLE; CONVULSION; ENZYME DEFICIENCY; EXON; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HYPERTRIGLYCERIDEMIA; HYPOGLYCEMIA; INFANT; KETOACIDOSIS; MACROMOLECULE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN FIBROBLAST; X CHROMOSOME RECESSIVE DISORDER;

EID: 0031828025     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.8.650     Document Type: Article

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