Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

American Journal of Medical Genetics

Volumn 116, Issue 1, 2003, Pages 52-56

  Zhao, Huiquan ^a   Bailey, Laurie A ^a   Elsas II, Louis J ^b   Grinzaid, Karen A ^b   Grabowski, Gregory A ^a,c  

^a CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Acid glucosidase; Genotype phenotype relationship; Lysosomal storage disease; Mutation and polymorphism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; FEMALE; GAUCHER DISEASE; GENE DOSAGE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; PRIORITY JOURNAL;

EID: 0037216705     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10029     Document Type: Article

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