PMID: 24685009

Triantafyllou P, Economou M, Vlachaki E, Aggelaki M, Athanassiou-Mataxa M, Michelakaki E, Zafeiriou DI
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
Pediatr Neurol. 2014 Jun;50(6):622-4. doi: 10.1016/j.pediatrneurol.2014.01.027. Epub 2014 Jan 16., [PubMed]
Sentences
No. Mutations Sentence Comment
45 ABCD1 p.Ala223Asp
X
ABCD1 p.Ala223Asp 24685009:45:113
status: NEW
view ABCD1 p.Ala223Asp details
 Full sequencing of the coding regions of the ABCD1 gene disclosed the previously unreported mutation Nt1054 C/A (A223D). Login to comment