The mutation is a T-to-C transition at nucleotide position 686 (Genbank Accession NM_008494), in the last of four exons, resulting in replacement of a conserved valine by alanine at amino acid position 204 (V204A) of the protein. (J:132741)
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The mutation is a T-to-C transition at nucleotide position 686 (Genbank Accession NM_008494), in the last of four exons, resulting in replacement of a conserved valine by alanine at amino acid position 204 (V204A) of the protein. (J:132741)