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Article

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.

The Journal of clinical endocrinology and metabolism - 1 Feb 2005

Moon Sung-Dae, Park Jae-Hyun, Kim Eun-Min, Kim Ju-Hee, Han Je-Ho, Yoo Soon-Jib, Yoon Kun-Ho, Kang Moo-Il, Lee Kwang-Woo, Son Ho-Yong, Kang Sung-Koo, Oh Se-Jeong, Kim Kyung-Mi, Yoon Sung-Joo Kim, Park Jae-Gahb, Kim Il-Jin, Kang Hio Chung, Hong Soon-Won, Kim Kyung-Rae, Cha Bong-Yun

Abstract excerpt

HRPT2, the gene associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, was previously mapped to 1q24-q32. It was recently cloned, and several germline mutations were found to predispose to HPT-JT syndrome. We sequenced the complete HRPT2 coding sequence and splice-junctional regions in a Korean family with HPT-JT syndrome and identified a novel germline mutation, IVS2-1G>A in intron 2, that caused the...

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Identifiers

PMID: 15613436
DOI: 10.1210/jc.2004-0991

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.PMID 15613436Read ↗

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