ABCD1 p.Gln672*
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PMID: 9712540
[PubMed]
Holzinger A et al: "Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene."
No.
Sentence
Comment
3
This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10.
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ABCD1 p.Gln672* 9712540:3:31
status: NEW7 If the Q672X mutation leads in fact to an unstable translation product this would be consistent with the hypothesis that the C-terminus is crucial for ALDP stability.
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ABCD1 p.Gln672* 9712540:7:7
status: NEW71 Discussion We have found a novel nonsense mutation (C2400T/Q672X) in exon 10 of the adrenoleukodystrophy gene that would result in a truncated protein lacking 72 amino acids at the C-terminus.
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ABCD1 p.Gln672* 9712540:71:59
status: NEW
PMID: 15128429
[PubMed]
Ding C et al: "Simultaneous quantitative and allele-specific expression analysis with real competitive PCR."
No.
Sentence
Comment
132
The ddNTPs/dNTP mixtures are: ddATP/ddCTP/ddGTP/dTTP for interleukin 6 and ABCD1 Q672X, ddTTP/ddCTP/ddGTP/dATP for lexA, and ddATP/ddCTP/ddTTP/dGTP for ABCD-1 S108W and S213C.
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ABCD1 p.Gln672* 15128429:132:81
status: NEW