ABCA12 p.Trp1294*
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PMID: 17986308
[PubMed]
Thomas AC et al: "Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis."
No.
Sentence
Comment
25
We have also seen two unrelated Pakistani patients with the ABCA12 mutation W1294X which is predicted to change a tryptophan to a premature stop codon at this residue.
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ABCA12 p.Trp1294* 17986308:25:76
status: NEW