Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations

Human Mutation

Volumn 7, Issue 3, 1996, Pages 214-218

  Kim, Jong Won ^a,b   Liou, Benjamin B ^a,c   Lai, Ming Yang ^c   Ponce, Elvira ^a   Grabowski, Gregory A ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b Samsung Medical Center   (South Korea)

^c NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

Acid glucosidase; Gaucher disease; Mutations

Indexed keywords

BETA GALACTOSIDASE; COMPLEMENTARY DNA;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; ETHNIC GROUP; FEMALE; GAUCHER DISEASE; GENETIC SCREENING; HUMAN; INFANT; LYSOSOME STORAGE DISEASE; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-GLUCOSIDASE; CHILD, PRESCHOOL; DNA PRIMERS; EXONS; FEMALE; FIBROBLASTS; GAUCHER DISEASE; HUMANS; IMMUNOBLOTTING; INFANT; KOREA; MALE; MIDDLE AGED; MUTATION; TAIWAN;

EID: 0029868603     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:3<214::AID-HUMU5>3.0.CO;2-A     Document Type: Article

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