Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients

American Journal of Medical Genetics

Volumn 71, Issue 2, 1997, Pages 172-178

  Choy, Francis Y M ^a   Humphries, M Lisa ^a   Shi, HuiPing ^b  

^a UNIVERSITY OF VICTORIA   (Canada)

^b PEKING UNION MEDICAL COLLEGE   (China)

Author keywords

Gaucher disease; Glucocerebrosidase; Mutation; Sequence analysis; SSCP analysis

Indexed keywords

ALLELE; ARTICLE; CHILD; CHINESE; GAUCHER DISEASE; HUMAN; HUMAN CELL; LYSOSOME; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DNA; DNA MUTATIONAL ANALYSIS; DNA RESTRICTION ENZYMES; EXONS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030802059     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970808)71:2<172::AID-AJMG10>3.0.CO;2-B     Document Type: Article

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