A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration-Reference-Cited by-同舟云学术

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration

Published:2020-12 Issue:6 Volume:107 Page:1062-1077
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Polovitskaya Maya M.,Barbini Carlo,Martinelli Diego,Harms Frederike L.,Cole F. Sessions,Calligari Paolo,Bocchinfuso Gianfranco,Stella Lorenzo,Ciolfi Andrea,Niceta Marcello,Rizza Teresa,Shinawi Marwan,Sisco Kathleen,Johannsen Jessika,Denecke Jonas,Carrozzo Rosalba,Wegner Daniel J.,Kutsche Kerstin,Tartaglia Marco,Jentsch Thomas J.^ORCID

Funder

Deutsche Forschungsgemeinschaft

National Human Genome Research Institute

Louis-Jeantet Foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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