Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

Human Mutation

Volumn 15, Issue 2, 2000, Pages 181-188

  Stone, Deborah L ^a   Tayebi, Nahid ^a   Orvisky, Eduard ^a   Stubblefield, Barbara ^a   Madike, Victor ^a   Sidransky, Ellen ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

Acute neuronopathic; Congenital ichthyosis; Gaucher disease; GBA; Genotype phenotype correlation; Glucocerebrosidase; Hydrops fetalis

Indexed keywords

GLUCOSYLCERAMIDASE;

ARTICLE; DISEASE CLASSIFICATION; FETUS HYDROPS; GAUCHER DISEASE; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; LYSOSOME STORAGE DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS;

ALLELES; ETHNIC GROUPS; EXONS; GAUCHER DISEASE; GENES, LETHAL; GENETIC HETEROGENEITY; GLUCOSYLCERAMIDASE; HUMANS; INFANT; MUTATION; PSEUDOGENES; RECOMBINANT FUSION PROTEINS;

EID: 0033951675     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S     Document Type: Article

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