Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity

Journal of Biomedical Science

Volumn 17, Issue 1, 2010, Pages

  Yang, Chi Fan ^a   Wu, Jer Yuarn ^a,b   Tsai, Fuu Jen ^b,c,d  

^a INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d ASIA UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; BINDING PROTEIN; COMPLEMENTARY DNA; ELASTIN BINDING PROTEIN; GENOMIC DNA; LYSOSOME ENZYME; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL STRAIN COS1; CHILD; CHINESE; CLINICAL FEATURE; CLONE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME REPRESSION; FEMALE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSFECTION; GENETIC VARIABILITY; GM1 GANGLIOSIDOSIS; HEART DISEASE; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; STRAIN DIFFERENCE; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; ASIAN; CERCOPITHECUS; ENZYMOLOGY; ETHNIC GROUP; GENETICS; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PREGNANCY;

AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BETA-GALACTOSIDASE; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; GANGLIOSIDOSIS, GM1; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PREGNANCY;

EID: 77957193080     PISSN: 10217770     EISSN: 14230127     Source Type: Journal    
DOI: 10.1186/1423-0127-17-79     Document Type: Article

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