Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis
Representative chromatogram generated by Big Dye Terminator, sequencing of translated exon1 of BSND gene indicating a T to C transition at nucleotide 35 (35T > C) from an affected female individual (VI-1) (a), a heterozygous carrier (VI-1) (b) and a normal male individual (V-2) (c) of the family. The T to C transition at nucleotide position 35 results in isoleucine to threonine change at amino acid 12 (I12T). Arrows indicate the nucleotide change in the sequence.
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