Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Thi Tuyet Mai Nguyen,Yoshiko Murakami,Eamonn Sheridan,Sophie Ehresmann,Justine Rousseau,Anik St-Denis,Guoliang Chai,Norbert F. Ajeawung, Laura Fairbrother,Tyler Reimschisel, Alexandra Bateman,Elizabeth Berry-Kravis,Fan Xia,Jessica Tardif,David A. Parry,Clare V. Logan,Christine Diggle,Christopher P. Bennett, Louise Hattingh,Jill A. Rosenfeld,Michael Scott Perry,Michael J. Parker,Francoise Le Deist,Maha S. Zaki,Erika Ignatius,Pirjo Isohanni,Tuula Lonnqvist,Christopher J. Carroll,Colin A. Johnson,Joseph G. Gleeson,Taroh Kinoshita,Philippe M. Campeau AMERICAN JOURNAL OF HUMAN GENETICS（2017）
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Glucocerebrosidase Mutations
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