Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function

Journal of Inherited Metabolic Disease

Volumn 38, Issue 2, 2015, Pages 243-256

  Beamer, Lesa J ^a  

^a University of Missouri   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; GLUTAMINE; GLYCINE; LEUCINE; PHOSPHOGLUCOMUTASE; SERINE; THREONINE; PGM1 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; BETA SHEET; CRYSTAL STRUCTURE; ENZYME STRUCTURE; HUMAN; METABOLIC DISORDER; METAL BINDING; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; PROGNOSIS; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; REVIEW; ANIMAL; CHEMICAL STRUCTURE; CHEMISTRY; DEFICIENCY; ENZYME ACTIVE SITE; ENZYME SPECIFICITY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; GLYCOGEN STORAGE DISEASE; GLYCOSYLATION; HEREDITY; MOLECULAR GENETICS; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN PROCESSING; RABBIT; STRUCTURE ACTIVITY RELATION;

AMINO ACID SEQUENCE; ANIMALS; CATALYTIC DOMAIN; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN STORAGE DISEASE; GLYCOSYLATION; HEREDITY; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PHOSPHOGLUCOMUTASE; PROTEIN CONFORMATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; RABBITS; STRUCTURE-ACTIVITY RELATIONSHIP; SUBSTRATE SPECIFICITY;

EID: 84923799636     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9757-9     Document Type: Review

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