TY  - GEN
AU  - Tayebi,N
AU  - Reissner,K J
AU  - Lau,E K
AU  - Stubblefield,B K
AU  - Klineburgess,A C
AU  - Martin,B M
AU  - Sidransky,E
TI  - Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease
SN  - 0031-3998
PY  - 1998///0616
KW  - Abortion, Spontaneous
KW  - genetics
KW  - Alleles
KW  - Child, Preschool
KW  - Female
KW  - Fetal Death
KW  - Gaucher Disease
KW  - classification
KW  - Genetic Variation
KW  - Genotype
KW  - Glucosylceramidase
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Phenotype
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Pregnancy
KW  - Recombination, Genetic
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1203/00006450-199805000-00003
ER  -