ABCD1 p.Gly512Asp
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PMID: 19496984
[PubMed]
Awaya T et al: "Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy."
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Comment
27
Genetic analysis of ABCD1 showed a point mutation at G512D (G1535A).
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ABCD1 p.Gly512Asp 19496984:27:53
status: NEW