Article
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
Human mutation - 1 Jun 2009
Persichetti Emanuele, Chuzhanova Nadia A, Dardis Andrea, Tappino Barbara, Pohl Sandra, Thomas Nick S T, Rosano Camillo, Balducci Chiara, Paciotti Silvia, Dominissini Silvia, Montalvo Anna Lisa, Sibilio Michela, Parini Rossella, Rigoldi Miriam, Di Rocco Maja, Parenti Giancarlo, Orlacchio Aldo, Bembi Bruno, Cooper David N, Filocamo Mirella, Beccari Tommaso
Abstract excerpt
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 nonsense (p.W111X) mutations and a transition in the obligate AG-dinucleotide of the intron 8 acceptor splice site...
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