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Volumn 2, Issue 2, 2002, Pages 167-175

Molecular characterization of glycogen storage disease type III

a DUKE UNIVERSITY MEDICAL CENTER (United States)

Author keywords

Genotype phenotype correlation; GSD III; Molecular characterization; Molecular diagnosis; Mutation analysis; Non sense mutation; Polymorphism; Structure function relationship

Indexed keywords

COMPLEMENTARY DNA; GLYCOGEN; GLYCOGEN DEBRANCHING ENZYME; MESSENGER RNA; NUCLEOTIDE;

AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN LIVER LEVEL; GLYCOGEN METABOLISM; GLYCOGEN MUSCLE LEVEL; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; REVIEW; STRUCTURE ACTIVITY RELATION; SYMPTOMATOLOGY;

INSERTION SEQUENCES;

EID: 0036079985 PISSN: 15665240 EISSN: None Source Type: Journal
DOI: 10.2174/1566524024605752 Document Type: Review

Times cited : (88)

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