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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Genomic organization and sequence of D12S53E ( Pmel 17), the human homologue of the mouse silver (si) locus.

We have determined the DNA sequence and genomic organization of D12S53E ( Pmel 17), the human homologue of the mouse silver (si) locus. D12S53E encodes a melanosomal matrix protein whose expression is closely correlated with cellular melanin content and which is a frequent melanoma tumor antigen recognized by cytotoxic T lymphocytes. D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci.[1]

References

  1. Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. Bailin, T., Lee, S.T., Spritz, R.A. J. Invest. Dermatol. (1996) [Pubmed]
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