ABCD1 p.Ala294Val
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PMID: 16018167
[PubMed]
Dionne A et al: "Adrenomyeloneuropathy: report of a new mutation in a French Canadian female."
No.
Sentence
Comment
55
This causes the substitution of a valine for an alanine at amino acid 294 (A294V) within a highly conserved region of the protein.
X
ABCD1 p.Ala294Val 16018167:55:75
status: NEW70 The mutation reported causes the substitution of valine for alanine at amino acid 294(A294V) within a highly conserved region of the protein.
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ABCD1 p.Ala294Val 16018167:70:86
status: NEW