ABCD1 p.Ser404*


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[hide] Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10., [PMID:22280810]

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