ABCA12 p.Trp1744*
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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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27 Additionally, two unrelated white-skinned patients from the U.K. were both heterozygous for the mutation 2025delG in exon 16 that is predicted to result in frameshift mutations.5 As previously reported, two unrelated HI-affected patients of Navajo American descent were found to possess the mutation W1744X in exon 34 which is predicted to change a tryptophan to a premature stop codon at this amino acid residue, again producing a truncated protein.4,5 The ABCA12 mutation Y1090X residing in exon 23 (tyrosine to a premature stop codon) has also been identified in two unrelated patients.
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ABCA12 p.Trp1744* 17986308:27:300
status: NEW