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Identification and molecular characterization of PERV Gamma1 long terminal repeats

✍ Scribed by Jae-Won Huh; Dae-Soo Kim; Hong-Seok Ha; Kung Ahn; Kyu-Tae Chang; Byung-Wook Cho; Heui-Soo Kim


Publisher
Korean Society for Molecular and Cellular Biology
Year
2009
Tongue
English
Weight
259 KB
Volume
27
Category
Article
ISSN
1016-8478

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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