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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.

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Title: 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.
Authors: Cetin, H.1 hakan.cetin@meduniwien.ac.at, Wöhrer, A.2, Rittelmeyer, I.3, Gencik, M.3, Zulehner, G.1, Zimprich, F.1, Ströbel, T.2, Zimprich, A.1
Source: Clinical Genetics. Oct2016, Vol. 90 Issue 4, p366-371. 6p.
Database: Academic Search Ultimate
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  Data: 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.
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  Data: <searchLink fieldCode="AR" term="%22Cetin%2C+H%2E%22">Cetin, H.</searchLink><relatesTo>1</relatesTo><i> hakan.cetin@meduniwien.ac.at</i><br /><searchLink fieldCode="AR" term="%22Wöhrer%2C+A%2E%22">Wöhrer, A.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Rittelmeyer%2C+I%2E%22">Rittelmeyer, I.</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Gencik%2C+M%2E%22">Gencik, M.</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Zulehner%2C+G%2E%22">Zulehner, G.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Zimprich%2C+F%2E%22">Zimprich, F.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Ströbel%2C+T%2E%22">Ströbel, T.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Zimprich%2C+A%2E%22">Zimprich, A.</searchLink><relatesTo>1</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Oct2016, Vol. 90 Issue 4, p366-371. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=118278758
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      – TitleFull: 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.
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              Text: Oct2016
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