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Pulmonary Function and Emphysema in Williams-Beuren Syndrome
Williams-Beuren Syndrome (WBS) is caused by a submicroscopic deletion on chromosome 7q11.23 that encompasses the entire elastin (ELN) gene. Elastin, a key component of elastic fibers within the lung, is progressively destroyed in emphysema. Defects in the elastin gene have been associated with incre...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2010
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3397670/ https://ncbi.nlm.nih.gov/pubmed/20186780 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33300 |
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