ABCD1 p.Tyr559Cys
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PMID: 26607867
[PubMed]
Karkar A et al: "A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report."
No.
Sentence
Comment
43
In our study, we identified a novel nonsense mutation in exon 7 (c.1677C > G; p.(Tyr559*)) of a Moroccan patient, there is also another mutation found in the same residue by J. Haasjes & P.A.W. Mooijer in The Netherlands and S.J.S. Steinberg in USA but the nucleotide change is in one position behind our mutation (c.1676A > G; p.(Tyr559Cys)), this mutation is one of the unpublished data in the X-ALD database (http://www.x-ald.nl).
X
ABCD1 p.Tyr559Cys 26607867:43:331
status: NEW