ABCA12 p.Trp1744*
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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
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