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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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Bibliografski detalji
Glavni autori: Wan, Emily S., Pober, Barbara R., Washko, George, Raby, Benjamin A., Silverman, Edwin K.
Format: Artigo
Jezik:Inglês
Izdano: 2010
Teme:
Online pristup: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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