Mucopolysaccharidosis IVA: Characterization of a common mutation found in Finnish patients with attenuated phenotype

Human Genetics

Volumn 113, Issue 2, 2003, Pages 162-169

  Montaño, Adriana Maria ^a,f   Kaitila, Ilkka ^b   Sukegawa, Kazuko ^a   Tomatsu, Shunji ^a,c   Kato, Zenichiro ^a   Nakamura, Haruki ^d   Fukuda, Seiji ^a   Orii, Tadao ^a,e   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

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

^d OSAKA UNIVERSITY   (Japan)

^e CHUBU GAKUIN UNIVERSITY   (Japan)

^f GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; LYSOSOME ENZYME; MUTANT PROTEIN; N ACETYLGALACTOSAMINE 6 SULFATASE; PROTEIN PRECURSOR;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DYSOSTOSIS; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FINLAND; GAIT DISORDER; GENE MUTATION; GENE OVEREXPRESSION; GENETIC TRANSFECTION; GENOTYPE; GROWTH DISORDER; GROWTH RETARDATION; HUMAN; MALE; MOLECULAR DYNAMICS; MORQUIO SYNDROME; NUCLEOTIDE SEQUENCE; PH; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; THERMOSTABILITY; WILD TYPE;

IVA;

EID: 0037559322     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0959-8     Document Type: Article

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