Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. [electronic resource]
Producer: 19980616Description: 571-8 p. digitalISSN:- 0031-3998
- Abortion, Spontaneous -- genetics
- Alleles
- Child, Preschool
- Female
- Fetal Death
- Gaucher Disease -- classification
- Genetic Variation
- Genotype
- Glucosylceramidase -- genetics
- Humans
- Infant
- Infant, Newborn
- Male
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Pregnancy
- Recombination, Genetic
- Sequence Deletion
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Publication Type: Case Reports; Journal Article
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