PMID: 25920484

Habekost CT, Pereira FS, Vargas CR, Coelho DM, Torrez V, Oses JP, Portela LV, Schestatsky P, Felix VT, Matte U, Torman VL, Jardim LB
Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.
Metab Brain Dis. 2015 Oct;30(5):1279-84. doi: 10.1007/s11011-015-9672-2. Epub 2015 Apr 30., [PubMed]
Sentences
No. Mutations Sentence Comment
46 ABCD1 p.Arg518Gln
X
ABCD1 p.Arg518Gln 25920484:46:121
status: NEW
view ABCD1 p.Arg518Gln details
ABCD1 p.Arg617His
X
ABCD1 p.Arg617His 25920484:46:148
status: NEW
view ABCD1 p.Arg617His details
ABCD1 p.Arg401Trp
X
ABCD1 p.Arg401Trp 25920484:46:108
status: NEW
view ABCD1 p.Arg401Trp details
 Primers for exons 3, 6, 7 and 8, where the mutations carried by those with skewed inactivation patterns - p.Arg401Trp, p.Arg518Gln, p.Glu577X and p.Arg617His - are located, were used to amplify the cDNA. Login to comment