ABCMdb

PMID: 25324868

Jwa HJ, Lee KS, Kim GH, Yoo HW, Lim HH
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.
Korean J Pediatr. 2014 Sep;57(9):416-9. doi: 10.3345/kjp.2014.57.9.416. Epub 2014 Sep 30., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCD1 p.Arg163Leu We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1. Login to comment 42 ABCD1 p.Arg163Leu The ABCD1 gene in the proband revealed a missense mutation (p.Arg163Leu) caused by the nucleotide change 488G>T in exon 1 (Fig. 3A). Login to comment 45 ABCD1 p.Arg163Leu The c.488G>T (p.Arg163Leu) substitution is a previously unpublished mutation in the ABCD1 gene. Login to comment 58 ABCD1 p.Arg163Leu This mutation in the ABCD1 gene, c.488G>T (p.Arg163Leu) in exon 1, has been reported by Dr. Steinberg through the internet-accessible mutation database for X-ALD (http://www.x-ald. Login to comment 81 ABCD1 p.Arg163Leu We have reported a Korean boy with atypical X-ALD, confirmed by a previously unpublished datum from the X-ALD Database, c.488G>T (p.Arg163Leu) in exon 1 of ABCD1. Login to comment 84 ABCD1 p.Arg163Leu The mutation in the ABCD1 gene is hemizygous c.488G>T (p.Arg163Leu) in the middle of sequence. Login to comment