ABCD1 p.His669Tyr
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PMID: 23009600
[PubMed]
Jonch AE et al: "Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy."
No.
Sentence
Comment
34
The AMN diagnosis was confirmed by identification of a novel c.2005C>T mutation in the ABCD1 gene (Reference sequence: NM00033.3) predicting an amino acid shift from histidine to tyrosine at position 669 p. His669Tyr.
X
ABCD1 p.His669Tyr 23009600:34:166
status: NEWX
ABCD1 p.His669Tyr 23009600:34:207
status: NEW