PMID: 16018167

Dionne A, Brunet D, McCampbell A, Dupre N
Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
Can J Neurol Sci. 2005 May;32(2):261-3., [PubMed]
Sentences
No. Mutations Sentence Comment
55 ABCD1 p.Ala294Val
X
ABCD1 p.Ala294Val 16018167:55:75
status: NEW
view ABCD1 p.Ala294Val details
 This causes the substitution of a valine for an alanine at amino acid 294 (A294V) within a highly conserved region of the protein. Login to comment 70 ABCD1 p.Ala294Val
X
ABCD1 p.Ala294Val 16018167:70:86
status: NEW
view ABCD1 p.Ala294Val details
 The mutation reported causes the substitution of valine for alanine at amino acid 294(A294V) within a highly conserved region of the protein. Login to comment