Mutation identification and characterization of a Taiwanese patient with fucosidosis

Journal of Human Genetics

Volumn 52, Issue 6, 2007, Pages 553-556

  Lin, Shuan Pei ^a,b,c   Chang, Jui Hung ^d   De La Cadena, Maria Paez ^e   Chang, Ting Fang ^d   Lee Chen, Guey Jen ^d  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^c NATIONAL TAIPEI UNIVERSITY OF NURSING AND HEALTH SCIENCES   (Taiwan)

^d NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^e UNIVERSITY OF VIGO   (Spain)

Author keywords

L Fucosidase; Fucosidosis; In vitro expression; Mutation; Polymorphism

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ADULT; ALPHA LEVO FUCOSIDASE GENE; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; DNA FLANKING REGION; DNA POLYMORPHISM; DNA SEQUENCE; ENZYME ACTIVITY; EXON; FEMALE; FUCOSIDOSIS; GENE; GENE IDENTIFICATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; INTRON; MICHAELIS CONSTANT; NONHUMAN; PROTEIN EXPRESSION; PROTEIN STABILITY; TAIWAN; WESTERN BLOTTING; WILD TYPE;

ADULT; ALPHA-L-FUCOSIDASE; FEMALE; FUCOSIDOSIS; HUMANS; MUTATION; POLYMORPHISM, GENETIC; TAIWAN;

EID: 34249666764     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0136-3     Document Type: Article

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