PMID: 21068741

Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
J Hum Genet. 2011 Feb;56(2):106-9. Epub 2010 Nov 11., [PubMed]
Sentences
No. Mutations Sentence Comment
21 ABCD1 p.Arg401Gln
X
ABCD1 p.Arg401Gln 21068741:21:114
status: NEW
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ABCD1 p.Arg660Trp
X
ABCD1 p.Arg660Trp 21068741:21:169
status: NEW
view ABCD1 p.Arg660Trp details
ABCD1 p.Gly512Ser
X
ABCD1 p.Gly512Ser 21068741:21:127
status: NEW
view ABCD1 p.Gly512Ser details
ABCD1 p.Gly266Arg
X
ABCD1 p.Gly266Arg 21068741:21:101
status: NEW
view ABCD1 p.Gly266Arg details
ABCD1 p.Arg617His
X
ABCD1 p.Arg617His 21068741:21:153
status: NEW
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ABCD1 p.Ser514Ile
X
ABCD1 p.Ser514Ile 21068741:21:140
status: NEW
view ABCD1 p.Ser514Ile details
 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). Login to comment