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Novel Alu Retrotransposon Insertion Leading to Alström Syndrome
Alström Syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal failure. Alström Syndrome is caused by recessive...
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| Main Authors: | , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3264847/ https://ncbi.nlm.nih.gov/pubmed/21877133 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-1083-9 |
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