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- W2037091978 abstract "In a series of 18 individuals comprising parents of Angelman syndrome (AS) patients and AS patients with large deletions, mi-crodeletions, and no deletions, we utilized fluorescence in situ hybridization (FISH) with genomic phage clones for loci D15S63 and GABRB3 for deletion detection of chromosome 15qll-ql3. Utilization of probes at these loci allows detection of common large deletions and permits discrimination of less common small deletions. In all individuals the molecular cytogenetic data were concordant with the DNA deletion analyses. FISH provides an accurate method of deletion detection for chromosome 15qll-ql3. © 1995 Wiley-Liss, Inc." @default.
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- W2037091978 date "1995-03-13" @default.
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- W2037091978 title "Angelman syndrome: Validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection" @default.
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- W2037091978 doi "https://doi.org/10.1002/ajmg.1320560123" @default.
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