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Monia B. Hammer, Ghada Eleuch-Fayache, Lucia V

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1 Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity 
Monia B. Hammer, Ghada Eleuch-Fayache, Lucia V. Schottlaender, Houda Nehdi, J. Raphael Gibbs, Sampath K. Arepalli, Sean B. Chong, Dena G. Hernandez, Anna Sailer, Guoxiang Liu, Pramod K. Mistry, Huaibin Cai, Ginamarie Shrader, Celeste Sassi, Yosr Bouhlal, Henry Houlden, Fayçal Hentati, Rim Amouri, Andrew B. Singleton  The American Journal of Human Genetics  Volume 92, Issue 2, Pages (February 2013) DOI: /j.ajhg Copyright © 2013 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of Four Families with ARCA
Affected family members are shaded. Males are represented by squares, females are represented by circles. Mutation status is denoted as follows: WT, wild-type; mt, mutant. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

3 Figure 2 GBA2 Mutations Detected
Illustration of GBA2, which comprises 17 exons. The three mutations identified are located in exons 2, 5, and 17. In the middle portion of the figure, sequence chromatograms are shown for each of the different mutations identified. Amino acid alignment via ClustalW is shown in the lower portion of the figure and illustrates the sequence conservation across species. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

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