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Detection of the PTPN11 mutation in the NS patient. Shown here is a portion of the DNA-sequence eletropherogram of the PTPN11 exon 3. Compared to the normal sequence, the affected patient has a heterozygous C to T transition at nucleotide position 218 of PTPN11 gene. This transition converts a threonine to isoleucine substitution at codon 3 (Thr73Ile) of the PTPN11 amino acid sequence
