ABCD1 p.Gln178*
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PMID: 26454440
[PubMed]
Chu SS et al: "Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
86
Eight of the 22 mutations [c.1017G>T (p.W339C), c.892G>C (p.G289R), c.532C>T (p.Q178*), c.1544C>A (p.S515Y), c.1428C>A (p.C476*), c.1182delG (p.A395Lfs*15), c.424delC (p.L142Sfs*56), c.1759_1761dup (p.I588H)] were novel (Fig. 2).
X
ABCD1 p.Gln178* 26454440:86:80
status: NEW118 A: c.1017G>T (p.W339C); B: c.892G>C (p.G289R); C: c.532C>T (p.Q178*); D: c.1544C>A (p.S515Y); E: c.1428C>A (p.C476*); F: c.1182delG (p.A395Lfs*15); G: c.424delC (p.L142Sfs*56); H: c.1759_1761dup (p.I588H).
X
ABCD1 p.Gln178* 26454440:118:62
status: NEW