ABCD1 p.Arg163Leu
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PMID: 25324868
[PubMed]
Jwa HJ et al: "A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1."
No.
Sentence
Comment
9
We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1.
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ABCD1 p.Arg163Leu 25324868:9:37
status: NEW42 The ABCD1 gene in the proband revealed a missense mutation (p.Arg163Leu) caused by the nucleotide change 488G>T in exon 1 (Fig. 3A).
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ABCD1 p.Arg163Leu 25324868:42:62
status: NEW45 The c.488G>T (p.Arg163Leu) substitution is a previously unpublished mutation in the ABCD1 gene.
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ABCD1 p.Arg163Leu 25324868:45:16
status: NEW58 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.
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ABCD1 p.Arg163Leu 25324868:58:45
status: NEW81 We have reported a Korean boy with atypical X-ALD, confirmed by a previously unpublished datum from the X-ALD Database, c.488G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.
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ABCD1 p.Arg163Leu 25324868:81:132
status: NEW84 The mutation in the ABCD1 gene is hemizygous c.488G>T (p.Arg163Leu) in the middle of sequence.
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ABCD1 p.Arg163Leu 25324868:84:57
status: NEW