Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. [electronic resource]
- Pediatric research May 1998
- 571-8 p. digital
Publication Type: Case Reports; Journal Article
0031-3998
10.1203/00006450-199805000-00003 doi
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