PMID: 22592565

Tremolizzo L, Patassini M, Uziel G, Castellotti B, Gellera C, Ferrarese C, Appollonio I
Granny trips down: is she carrying the big bad wolf?
Neurol Sci. 2013 Nov;34(11):2077-9. doi: 10.1007/s10072-012-1108-8. Epub 2012 May 17., [PubMed]
Sentences
No. Mutations Sentence Comment
21 ABCD1 p.Arg617His
X
ABCD1 p.Arg617His 22592565:21:88
status: NEW
view ABCD1 p.Arg617His details
 In fact, genetic analysis of the ABCD1 gene demonstrated the presence of the mutation p.R617H within exon 8. Login to comment