TY  - GEN
AU  - Zhao,Huiquan
AU  - Bailey,Laurie A
AU  - Elsas,Louis J
AU  - Grinzaid,Karen A
AU  - Grabowski,Gregory A
TI  - Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes
SN  - 1552-4825
PY  - 2003///0530
KW  - Alleles
KW  - Child, Preschool
KW  - DNA
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - Female
KW  - Gaucher Disease
KW  - enzymology
KW  - Glucosylceramidase
KW  - deficiency
KW  - Haplotypes
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Mutation, Missense
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.10029
ER  -