Glycerol kinase deficiency: Evidence for complexity in a single gene disorder

Human Genetics

Volumn 109, Issue 1, 2001, Pages 55-62

  Dipple, K M ^a   Zhang, Y H ^a   Huang, B L ^a   McCabe, L L ^a   Dallongeville, J ^a   Inokuchi, T ^a   Kimura, M ^a   Marx, H J ^a   Roederer, G O ^a   Shih, V ^a   Yamaguchi, S ^a   Yoshida, I ^a   McCabe, E R B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCEROL KINASE;

ADULT; ARTICLE; CENTRAL NERVOUS SYSTEM FUNCTION; CHROMOSOME 21P; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESCHERICHIA COLI; FEMALE; FIBROBLAST; GENE MAPPING; GENETIC CODE; GENETIC DISORDER; GENOTYPE; GLYCEROL KINASE DEFICIENCY; GLYCEROL URINE LEVEL; HUMAN; HUMAN CELL; HYPERGLYCEROLEMIA; INHERITANCE; LYMPHOBLASTOID CELL LINE; MALE; METABOLIC ACTIVATION; MISSENSE MUTATION; NEWBORN; NONHUMAN; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; SYMPTOMATOLOGY; X CHROMOSOME ABERRATION;

CATALYTIC DOMAIN; CELL LINE; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; GENOTYPE; GLYCEROL KINASE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; X CHROMOSOME;

ESCHERICHIA COLI;

EID: 17844379979     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100545     Document Type: Article

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