- Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
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Gill I, Kim JH, Moon JH, Kim YJ, Kim NS
- KMID: 2435947
- J Genet Med.
- 2018 Dec;15(2):87-91.
- doi: 10.5734/JGM.2018.15.2.87
X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of... -
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