PMID: 24768737

Chen X, Chen Z, Huang D, Liu X, Gui Q, Yu S
Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier.
Gene. 2014 Jul 10;544(2):248-51. doi: 10.1016/j.gene.2014.04.056. Epub 2014 Apr 25., [PubMed]
Sentences
No. Mutations Sentence Comment
48 ABCD1 p.Ser515Phe
X
ABCD1 p.Ser515Phe 24768737:48:210
status: NEW
view ABCD1 p.Ser515Phe details
 The diagnosis of ALD was confirmed by elevated plasma level of VLCFA [hexacosanoic acid = 0.81 (0-0.5), C24:0/C22:0 = 1.99 (0-1.24), C26:0/C22:0 = 0.1 (0-0.02)] and the detection of missense mutation C1544C/T (Ser515Phe) on the ABCD1 gene of exon 6. Login to comment 103 ABCD1 p.Ser515Phe
X
ABCD1 p.Ser515Phe 24768737:103:114
status: NEW
view ABCD1 p.Ser515Phe details
ABCD1 p.Ser515Phe
X
ABCD1 p.Ser515Phe 24768737:103:155
status: NEW
view ABCD1 p.Ser515Phe details
 We found a missense mutation (C1544C/T) in exon 6 of ABCD1 gene in this patient which predicts the replacement of serine to phenylalanine at position 515 (Ser515Phe). Login to comment