[Gene diagnosis of lysosomal diseases].

Article

[Gene diagnosis of lysosomal diseases].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Suzuki Y

Abstract excerpt

Molecular genetic analysis of lysosomal storage diseases has revealed numerous mutant genes for each disease, and the results have been applied to gene diagnosis in patients and their family members. In general, the same mutant gene is not always found in different families. Confirmation of a mut...

Topics

Adult
Heterozygote
Humans
Lysosomal Storage Diseases
Mutation
beta-Galactosidase

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