[Gene diagnosis of lysosomal diseases].

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 mutant gene is necessary for each proband case in a family, although some common mutations can be screened for patients in...

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