Identification and molecular characteriz
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Emanuele Persichetti; Nadia A. Chuzhanova; Andrea Dardis; Barbara Tappino; Sandr
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Article
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2009
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John Wiley and Sons
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English
β 333 KB
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Mucolipidosis type III (MLIII) is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. In a study of 10 patients from seven families with a clinical phenotype and enzymatic diagnosis of MLIII, six novel GNPTG gene mutations were identified. These included missense (p.T286M) and