ABCD1 p.Ala223Asp

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PMID: 24685009 [PubMed] Triantafyllou P et al: "Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene."
No. Sentence Comment
45 Full sequencing of the coding regions of the ABCD1 gene disclosed the previously unreported mutation Nt1054 C/A (A223D).
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ABCD1 p.Ala223Asp 24685009:45:113
status: NEW
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