Novel insertion mutation in a non-Jewish caucasian type 1 Gaucher disease patient

American Journal of Medical Genetics

Volumn 68, Issue 2, 1997, Pages 211-215

  Choy, Francis Y M ^a   Humphries, M Lisa ^a   Ferreira, Patrick ^b  

^a UNIVERSITY OF VICTORIA   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

Author keywords

ceredase therapy; Gaucher disease; glucocerebrosidase; mutation; PCR

Indexed keywords

ALGLUCERASE; GLUCOSYLCERAMIDASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GAUCHER DISEASE; GENE INSERTION; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; ALLELES; CELLS, CULTURED; CODON, TERMINATOR; DNA, COMPLEMENTARY; EXONS; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MUTAGENESIS, INSERTIONAL; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN BIOSYNTHESIS; SEQUENCE ANALYSIS, DNA;

EID: 0031049440     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970120)68:2<211::AID-AJMG17>3.0.CO;2-X     Document Type: Article

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