Sequencing analysis revealed that a C-to-T transition mutation occurred at coding nucleotide 160 in exon 1, which results in the substitution of the arginine residue at codon 54 by a cysteine in the encoded protein (p.R54C). (J:112248)
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Sequencing analysis revealed that a C-to-T transition mutation occurred at coding nucleotide 160 in exon 1, which results in the substitution of the arginine residue at codon 54 by a cysteine in the encoded protein (p.R54C). (J:112248)