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Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation syndromes caused by paternal and maternal deficiencies, respectively, in chromosome 15q11-q13. Approximately 70% of these patients have a large deletion of approximately 4 Mb extending from D15S9 (ML34) through D1...

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Main Authors: Christian, S L, Robinson, W P, Huang, B, Mutirangura, A, Line, M R, Nakao, M, Surti, U, Chakravarti, A, Ledbetter, D H
格式: Artigo
語言:Inglês
出版: 1995
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801233/
https://ncbi.nlm.nih.gov/pubmed/7611294
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