ABCD1 p.Arg518Gly
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PMID: 16087056
[PubMed]
Pan H et al: "ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
74
IVS5-6 del c and four missense mutations (p.H283D, p.N509I, p.R518G, and p.L520Q) were reported in China [12,13].
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ABCD1 p.Arg518Gly 16087056:74:62
status: NEW75 IVS5-6 del c and four missense mutations (p.H283D, p.N509I, p.R518G, and p.L520Q) were reported in China [12,13].
X
ABCD1 p.Arg518Gly 16087056:75:62
status: NEW