The E326K mutation and Gaucher disease: Mutation or polymorphism?

Clinical Genetics

Volumn 61, Issue 1, 2002, Pages 32-34

  Park, J K ^a   Tayebi, N ^a   Stubblefield, B K ^a   LaMarca, M E ^a   MacKenzie, J J ^b   Stone, D L ^a   Sidransky, Ellen ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b QUEEN S UNIVERSITY   (Canada)

Author keywords

Gaucher disease; Glucocerebrosidase; Lysosomal storage disease; Mutation; Polymorphism

Indexed keywords

ADENINE; GLUCOSYLCERAMIDASE; GUANINE;

ALLELE; ARTICLE; CONTROLLED STUDY; GAUCHER DISEASE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOME ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; POPULATION GENETICS; PRIORITY JOURNAL;

ALLELES; CASE-CONTROL STUDIES; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MUTATION, MISSENSE; POLYMORPHISM, GENETIC;

EID: 0036461424     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610106.x     Document Type: Article

References (16)

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