Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (sly syndrome)

Human Mutation

Volumn 30, Issue 4, 2009, Pages 511-519

  Tomatsu, Shunji ^a   Montano, Adriana M ^a   Dung, Vu Chi ^a   Grubb, Jeffrey H ^a   Sly, William S ^a,b  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SAINT LOUIS UNIVERSITY   (United States)

Author keywords

Alignment; GUS; GUSB; MPS VII; Mucopolysaccharidosis VII; Sly syndrome

Indexed keywords

BETA GLUCURONIDASE; DINUCLEOTIDE;

ALLELE; CPG ISLAND; DNA POLYMORPHISM; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS TYPE 7; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN METHYLATION; REVIEW; RNA SPLICING;

AMINO ACID SEQUENCE; ANIMALS; DISEASE MODELS, ANIMAL; GLUCURONIDASE; HUMANS; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VII; MUTATION; POLYMORPHISM, GENETIC; SEQUENCE HOMOLOGY, AMINO ACID;

FELIDAE; MURINAE;

EID: 63749116578     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20828     Document Type: Review

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