The molecular lesion is a A-to-G missense mutation (619A-G) in codon 207 in exon 2. This is predicted to alter amino acid 207 from a threonine to an alanine (T207A) in the encoded protein. (J:237905)
查看原文 参与反馈
The molecular lesion is a A-to-G missense mutation (619A-G) in codon 207 in exon 2. This is predicted to alter amino acid 207 from a threonine to an alanine (T207A) in the encoded protein. (J:237905)