HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

doi:10.1038/ng1048

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Article

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Nature genetics - 1 Dec 2002

Carpten J D, Robbins C M, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds W F, Gillanders E M, Kennedy A M, Chen J D, Agarwal S K, Sood R, Jones M P, Moses T Y, Haven C, Petillo D, Leotlela P D, Harding B, Cameron D, Pannett A A, Höög A, Heath H, James-Newton L A, Robinson B, Zarbo R J, Cavaco B M, Wassif W, Perrier N D, Rosen I B, Kristoffersson U, Turnpenny P D, Farnebo L-O, Besser G M, Jackson C E, Morreau H, Trent J M, Thakker R V, Marx S J, Teh B T, Larsson C, Hobbs M R

Abstract excerpt

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. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating...

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PMID: 12434154
DOI: 10.1038/ng1048

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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.PMID 12434154Read ↗

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