High frequency of missense mutations in glycogen storage disease type VI

Journal of Inherited Metabolic Disease

Volumn 30, Issue 5, 2007, Pages 722-734

  Beauchamp, N J ^a   Taybert, J ^b   Champion, M P ^c   Layet, V ^d   Heinz Erian, P ^e   Dalton, A ^f   Tanner, M S ^a   Pronicka, E ^b   Sharrard, M J ^f  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^d LE HAVRE HOSPITAL   (France)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GLYCOGEN; GLYCOGEN PHOSPHORYLASE; PYRIDOXAL 5 PHOSPHATE;

ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; ENZYME ACTIVATION; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GLUCOSE METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 5; GLYCOGEN STORAGE DISEASE TYPE 6; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; INFANT; LACTIC ACIDOSIS; LIVER LEVEL; MALE; MISSENSE MUTATION; MUSCLE LEVEL; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; NULL ALLELE; POSTPRANDIAL STATE; PREDICTION; PRESCHOOL CHILD; RECURRENT DISEASE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SYMPTOMATOLOGY;

AMINO ACID SEQUENCE; ANIMALS; BLOOD GLUCOSE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCOGEN PHOSPHORYLASE, LIVER FORM; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT; INTRONS; LACTIC ACID; LIVER; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SEVERITY OF ILLNESS INDEX;

EID: 35248856888     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0499-9     Document Type: Article

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