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. |
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| 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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| ISSN: | 00099163 |
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| DOI: | 10.1111/cge.12724 |
