Author:
Renaud Deborah,Brodsky Michael
Publisher
Springer Berlin Heidelberg
Reference8 articles.
1. Chen B, Rigat B et al (1999) Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. Am J Hum Genet 65(1):77–87
2. Gravel R, Kaback MM et al (2014) The GM2 Gangliosidoses. In: Valle D, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G (eds) OMMBID. McGraw-Hill, New York
3. Schepers U, Glombitza G et al (1996) Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Am J Hum Genet 59(5):1048–1056
4. Schroder M, Schnabel D et al (1991) A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. FEBS Lett 290(1-2):1–3
5. Schroder M, Schnabel D et al (1993) Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. Hum Genet 92(5):437–440
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