ABCD3 p.Gly17Asp
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151
49,57'58,5saTwo complementation group 1 PBD patients were shown to be heterozygous for PMP70 mutations: a missense mutation (G17D); and a donor splice site change in the last intron, which results in replacement of the C-terminal 25 amino acids by a new sequence of 23 residues.
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ABCD3 p.Gly17Asp 9711597:151:125
status: NEW