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Psychiatric and Cognitive Characteristics of Individuals with Danon Disease (LAMP2 Gene Mutation)
Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiologi...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Am J Med Genet A |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5561494/ https://ncbi.nlm.nih.gov/pubmed/28627787 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38320 |
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