ABCA12 p.Trp1294*
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[hide] Novel and recurring ABCA12 mutations associated wi... Br J Dermatol. 2008 Mar;158(3):611-3. Epub 2007 Nov 6. Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Br J Dermatol. 2008 Mar;158(3):611-3. Epub 2007 Nov 6., [PMID:17986308]
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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.
X
ABCA12 p.Trp1294* 17986308:25:76
status: NEW