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Molecular analysis of c.406 T- > C; p.136Cys- > Arg mutation within family 1. A)Pedigree of family 1. N.A.: not analysed; MUT+: mutation positive subjects; MUT-: mutation negative subjects. The arrow indicates proband 1 (II-3); III-4: affected daughter; III-3: unaffected daughter; III-2: affected nephew; III-1: unaffected nephew. B)dHPLC analysis within family 1. dHPLC chromatogram obtained for PTEN exon 5 PCR amplified fragment within members of family 1.
