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A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features of WBS have not yet been attributed to specific genes. Alth...

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書誌詳細
主要な著者: Peoples, Risa, Franke, Yvonne, Wang, Yu-Ker, Pérez-Jurado, Luis, Paperna, Tamar, Cisco, Michael, Francke, Uta
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2000
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288354/
https://ncbi.nlm.nih.gov/pubmed/10631136
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