Tayebi, N

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