Additional file 1: of Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1

Figure S1. Pedigrees of families of sporadic cases. The arrows indicate the probands in each family. The asterisks denote that peripheral blood samples of individuals had been acquired. a–e: Pedigrees of Families 6–10. Figure S2. Multiplex ligation-dependent probe amplification (MLPA) results using P081 and P082 probemixes for patients in Family 12. a: MLPA results using P081 for Patient 22; b: MLPA results using P081 for Patient 23; c: MLPA results using P082 for Patient 22; d: MLPA results using P082 for Patient 23. Figure S3. Amino acid sequences of neurofibromin around missense mutations. Mutation sites are highlighted. a: The amino acid G629 and surrounding sequence; b: The amino acid L1490 and surrounding sequence; c: The amino acid W1931 and surrounding sequence. Table S1. Primers used in this study. Table S2 In silico analysis of missense mutations. (PDF 781 kb)