Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene

Molecular Genetics and Metabolism

Volumn 89, Issue 1-2, 2006, Pages 139-149

  Tomatsu, Shunji ^a   Montaño, Adriana M ^a   Lopez, Patricia ^a   Trandafirescu, Georgeta ^a   Gutierrez, Monica A ^a   Oikawa, Hirotaka ^a   Nishioka, Tatsuo ^a   Vieira, Matheus B ^a   Orii, Tadao ^b   Noguchi, Akihiko ^a  

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

^b GIFU UNIVERSITY   (Japan)

Author keywords

Conservative amino acid change; Conserved amino acid residue; Missense variant; Mucopolysaccharidosis IVA; Sulfatase gene family

Indexed keywords

AMINO ACID; MUCOPOLYSACCHARIDOSIS IVA PROTEIN; N ACETYLGALACTOSAMINE 6 SULFATASE; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA POLYMORPHISM; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MORQUIO SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHONDROITINSULFATASES; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EVOLUTION, MOLECULAR; GENETIC MARKERS; HUMANS; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS IV; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX;

IVA;

EID: 33747022426     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.05.012     Document Type: Article

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