ABCD1 p.Ser514Ile
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PMID: 21068741
[PubMed]
Shimozawa N et al: "X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan."
No.
Sentence
Comment
21
Although most probands with ALD identified by us had a unique gene mutation, 6 missense mutations (p.Gly266Arg, p.Arg401Gln, p.Gly512Ser, p.Ser514Ile, p.Arg617His and p.Arg660Trp) and 1 frame-shift mutation (p.Gln472fs) were detected in two or three families (* in Figure 2).
X
ABCD1 p.Ser514Ile 21068741:21:140
status: NEW