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Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Monosomy 1p36 is the most common terminal deletion syndrome. This contiguous gene deletion syndrome is presumably caused by haploinsufficiency of a number of genes. We have constructed a contig of overlapping large-insert clones for the most distal 10.5 Mb of 1p36, evaluated the deletion sizes in 61...

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主要な著者: Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., Bacino, Carlos A., Shapira, Stuart K., Shaffer, Lisa G.
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2003
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オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180272/
https://ncbi.nlm.nih.gov/pubmed/12687501
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