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When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

✍ Scribed by Ruth Bargal; Marsha Zeigler; Bassam Abu-Libdeh; Vivi Zuri; Hanna Mandel; Ziva Ben Neriah; Fiona Stewart; Nursel Elcioglu; Tareq Hindi; Martine Le Merrer; Gideon Bach; Annick Raas-Rothschild


Book ID
116987841
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
192 KB
Volume
88
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