A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology

Author:

Paton Leigh,Bitoun Emmanuelle,Kenyon Janet,Priestman David A.,Oliver Peter L.,Edwards Benjamin,Platt Frances M.,Davies Kay E.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference59 articles.

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2. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts;Leroy;Science,1967

3. The genetic mucolipidoses. Diagnosis and differential diagnosis;Spranger;Humangenetik,1970

4. The cellular pathology of lysosomal diseases;Cox;J. Pathol,2012

5. A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes;Hickman;Biochem. Biophys. Res. Commun,1972

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