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J Invest Dermatol. 1996 Jan;106(1):24-7.

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

Author information

1
Department of Medical Genetics, University of Wisconsin School of Medicine, Madison, USA.

Abstract

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.

PMID:
8592076
DOI:
10.1111/1523-1747.ep12326976
[Indexed for MEDLINE]
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