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Chunk #8 — Online Methods — Methylations-sensitive digestion of MAGEL2 followed by Sanger sequencing

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
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yes

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Patient DNA was digested with restriction endonuclease SmaI (New England Biosystems, Ipswich, MA, USA), followed by long-range PCR with DNA primers, LR_magel2_for and LR_magel2_rev (Supplementary Table 2). Specific mutation loci were amplified by nested-PCR and further analyzed by capillary electrophoresis sequencing. The following pairs of DNA primers were used for nested PCRs: Nested_PCR1_for, Nested_PCR1_rev, and Nested_PCR2_for, Nested_PCR2_rev (Supplementary Table 2).