PMID: 21907609

Kim JE, Choi KG, Jeong JH, Kang HJ, Kim HS
Diffuse cortical hypometabolism on (18)F-FDG-PET scan in a case of an adult variant cerebello-brainstem dominant form of ALD manifesting dementia.
Parkinsonism Relat Disord. 2012 Feb;18(2):210-2. Epub 2011 Sep 9., [PubMed]
Sentences
No. Mutations Sentence Comment
23 ABCD1 p.Tyr174Ser
X
ABCD1 p.Tyr174Ser 21907609:23:34
status: NEW
view ABCD1 p.Tyr174Ser details
 The mutation of the c.521A > T (p.Tyr174Ser) of the ABCD1 gene in Xq28 was identified by direct sequencing of complementary DNA (cDNA). Login to comment