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Other

Description:

Fang et al. (1999) sequenced the major coding exons of the UBE3A gene in 56 index patients with a clinical diagnosis of Angelman syndrome (105830) and a normal DNA methylation pattern. Disease-causing mutations were identified in 17 of the 56 patients (30%),

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      Keywords:

      cerebellum,angelman,hippocampus,NSDL,NSDL_SetSpec_BEN,UBE3A,seizure,mutation,oai:nsdl.org:2200/20090420201639156T,Life Science,gene,autism,syndrome

      Language:

      English

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      Public - Available to anyone

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      Creative Commons Attribution Non-Commercial Share Alike

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