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A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

✍ Scribed by Alexander G. Bassuk; Robyn H. Wallace; Aimee Buhr; Andrew R. Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L. Griesbach; Shu Wu; Marcus Nashelsky; Eszter K. Vladar; Dragana Antic; Polly J. Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P. Scott; Jeffrey D. Axelrod; Christina Gurnett; Azhar S. Daoud; Sara Kivity; Miriam Y. Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D. Korczyn; Diane C. Slusarski; Samuel F. Berkovic; Hatem I. El-Shanti

Book ID: 113422550
Publisher: American Society of Human Genetics
Year: 2008
Tongue: English
Weight: 889 KB
Volume: 83
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2008.10.003

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