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Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma

✍ Scribed by Yong Gao; Kangjuan Yang; Shujiang Xu; Cheng Wang; Juan Liu; Zibo Zhang; Mingxiong Yuan; Xiaoping Luo; Mugen Liu; Qing K. Wang; Jing Yu Liu


Book ID
116989082
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
253 KB
Volume
102
Category
Article
ISSN
1096-7192

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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