Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

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Topics

• Amino Acid Substitution
• Child, Preschool
• Consanguinity
• Conserved Sequence
• Enzyme Replacement Therapy
• Female
• Gaucher Disease
• Glucosylceramidase
• Hepatomegaly
• Heterozygote
• Histiocytes
• Humans
• Iran
• Male
• Mutation, Missense
• Phenotype
• Point Mutation
• Recombinant Proteins