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A 28-kb Deletion Spanning D15S63 (PW71) in Five Families: A Rare Neutral Variant?

Methylation analysis with probe PW71 (D15S63) is an established procedure to test patients suspected of having Prader-Willi syndrome or Angelman syndrome. Using this test, we have identified a 28-kb deletion spanning D15S63 in five independent families. Sequence analysis revealed identical breakpoin...

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Autores principales: Buiting, Karin, Dittrich, Bärbel, Dworniczak, Bernd, Lerer, Israela, Abeliovich, Dvorah, Cottrell, Sally, Temple, I. Karen, Harvey, John F., Lich, Christina, Groß, Stephanie, Horsthemke, Bernhard
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 1999
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288369/
https://ncbi.nlm.nih.gov/pubmed/10577912
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