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The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA
Cetin, Hakan, Wöhrer, Adelheid, Rittelmeyer, Ina, Gencik, Martin, Zulehner, Gudrun, Zimprich, Fritz, Ströbel, Thomas, Zimprich, AlexanderLanguage:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12724
Date:
January, 2016
File:
PDF, 929 KB
english, 2016