Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders.

doi:10.1016/0009-8981(91)90003-u

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Article

Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders.

Clinica chimica acta; international journal of clinical chemistry - 31 May 1991

Louie E, Rafi M A, Wenger D A

Abstract excerpt

At present the identification of patients and carriers of most lysosomal disorders is accomplished by finding decreased activity of one enzyme in an easily obtained tissue sample such as leukocytes. As the genes for these enzymes are cloned and mutations identified, the use of molecular techniques to supplement enzyme testing will be warranted. To facilitate the implementation of such studies a simple method for...

Topics

Base Sequence
Cerebroside-Sulfatase
Cloning, Molecular
DNA
Gene Amplification
Humans
Leukocytes
Lysosomal Storage Diseases
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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