PMID: 23009600

Jonch AE, Danielsen ER, Thomsen C, Meden P, Svenstrup K, Nielsen JE
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.
BMC Neurol. 2012 Sep 26;12:108. doi: 10.1186/1471-2377-12-108., [PubMed]
Sentences
No. Mutations Sentence Comment
34 ABCD1 p.His669Tyr
X
ABCD1 p.His669Tyr 23009600:34:166
status: NEW
view ABCD1 p.His669Tyr details
ABCD1 p.His669Tyr
X
ABCD1 p.His669Tyr 23009600:34:207
status: NEW
view ABCD1 p.His669Tyr details
 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. Login to comment