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By Allen. Arthur Ormiston

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A report of two autistic boys. Author(s): Rogawski MA, Funderburk SJ, Cederbaum SD. Source: Human Heredity. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=413782&query_hl=47&itool=pubmed_docsum • Oculocutaneous albinism and multiple pigmented naevi. Author(s): Roller JA, Hahn M. Source: The British Journal of Dermatology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=414774&query_hl=47&itool=pubmed_docsum • Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome?

Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=2684028&query_hl=47&itool=pubmed_docsum • Malignant melanoma occurring in a case of oculocutaneous albinism. Author(s): Dargent JL, Lespagnard L, Heenen M, Verhest A. Source: Histopathology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=1634204&query_hl=47&itool=pubmed_docsum • Malignant melanoma with oculocutaneous albinism. Author(s): Scott MJ Jr, Giacobetti R, Zugerman C. Source: Journal of the American Academy of Dermatology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=7142477&query_hl=47&itool=pubmed_docsum 38 Oculocutaneous Albinism • MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

To identify patients with mutations in the corresponding human genes, the cDNA sequence of the human homologue of each gene and its expression level will be determined in normal individuals and in HPS patients with no mutations in known HPS genes. Each gene will be partially characterized by assays of transcript and protein tissue distribution together with subcellular localization measurements by immunofluorescence techniques. Interaction of the ruby eye and ruby eye-2 genes will be measured by a variety of phenotypic assays in mice bred to be doubly mutant for each gene together with direct tests for interaction of their protein products by coimmunoprecipitation techniques and yeast two-hybrid approaches.

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