A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1, 2). As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is thought to be unequal meiotic recombination, probably m...

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Detalhes bibliográficos
Main Authors: Osborne, Lucy R., Li, Martin, Pober, Barbara, Chitayat, David, Bodurtha, Joann, Mandel, Ariane, Costa, Teresa, Grebe, Theresa, Cox, Sarah, Tsui, Lap-Chee, Scherer, Stephen W.
Formato: Artigo
Idioma:Inglês
Publicado em: 2001
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2889916/
https://ncbi.nlm.nih.gov/pubmed/11685205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng753
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