Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.

Human mutation

Volumn 26, Issue 1, 2005, Pages 59-60

  Tang, Nelson L S ^a   Zhang, Weimin ^a   Grabowski, G A ^a   To, K F ^a   Choy, Francis Y M ^a   Ma, S L ^a   Shi, H P ^a  

^a and Hong Kong Branch of CAS Center for Excellence in Animal Evolution and Genetics   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

ARTICLE; ASIAN; CATALYSIS; CHEMISTRY; CHINA; CLASSIFICATION; ENZYME STABILITY; ENZYMOLOGY; GAUCHER DISEASE; GENETICS; HUMAN; INFANT; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE;

AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CATALYSIS; CHINA; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; INFANT; MUTATION;

EID: 33748560168     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9348     Document Type: Article

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