Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICTS OF INTEREST A. Schulz has received personal fees from BioMarin Pharmaceutical Inc., outside of the submitted work. M. Aristorena has no conflicts of interest to declare. M. Bailey was an employee of BioMarin Pharmaceutical Inc. at the time of the study. N. Miller was an employee of BioMarin Pharmaceutical Inc. at the time of the study. Professor S. E. Mole receives financial support from BioMarin Pharmaceutical Inc. to maintain the NCL Mutation Database and acts as an advisor to BioMarin Pharmaceutical Inc. on mutations in TPP1."
"The authors would like to thank Thomas Reynolds, formerly of BioMarin Pharmaceutical Inc., for his contribution to data acquisition for this manuscript, and Johan T. den Dunnen of Leiden University Medical Center, for hosting the revised content in the Global Variome shared Leiden Open Variation Database (LOVD) at http://www.LOVD.nl/TPP1. This study was sponsored by BioMarin Pharmaceutical Inc. Medical writing assistance was provided by Samantha Forster of ProScribe—part of the Envision Pharma Group and was funded by BioMarin Pharmaceutical Inc. Envision Pharma's services complied with international guidelines for Good Publication Practice (GPP3)."
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Last Updated: Aug 05, 2025