Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

Blood Cells, Molecules, and Diseases

Volumn 38, Issue 3, 2007, Pages 287-293

  Choy, Francis Y M ^a   Zhang, Weimin ^b   Shi, Hui Ping ^b   Zay, Agnes ^a   Campbell, Tessa ^c   Tang, Nelson ^d   Ferreira, Patrick ^e  

^a UNIVERSITY OF VICTORIA   (Canada)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^c UNIVERSITY OF CALGARY   (Canada)

^d CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^e UNIVERSITY OF CALGARY   (Canada)

Author keywords

Enzyme replacement therapy; Gaucher disease; Gaucher mutation N370S in Chinese; Genotype phenotype correlation; Novel Gaucher mutations

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; CYSTEINE; DNA; GLUCOSYLCERAMIDASE; GLUTAMIC ACID; GLYCINE; HISTIDINE; ISOLEUCINE; LEUCINE; MUTANT PROTEIN; PHENYLALANINE; PROLINE; SERINE; TRYPTOPHAN; TYROSINE; VALINE;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CHILD; CHINESE; CLINICAL ARTICLE; DELETION MUTANT; DNA SEQUENCE; ETHNIC DIFFERENCE; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; INFANT; JEW; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOMATOLOGY;

ADOLESCENT; ALLELES; CANADA; CHILD; CHILD, PRESCHOOL; CHINA; GAUCHER DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; INFANT; MUTATION; PHENOTYPE;

EID: 34047193434     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.11.003     Document Type: Article

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