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    HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

    We report here the identification of a gene associated with the hyperparathyroidism–jaw tumor (HPT–JT) syndrome. A single locus associated with HPT–JT (HRPT2) was previously mapped to chromosomal region 1q25–q32....

    J.D. Carpten, C.M. Robbins, A. Villablanca, L. Forsberg, S. Presciuttini… in Nature Genetics (2002)