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Article

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

The Journal of molecular diagnostics : JMD - 1 Nov 2006

Howell Viive M, Cardinal John W, Richardson Anne-Louise, Gimm Oliver, Robinson Bruce G, Marsh Deborah J

Abstract excerpt

Familial hyperparathyroidism, a disease of the parathyroid glands, may occur in conjunction with pituitary and pancreatic tumors (multiple endocrine neoplasia type I), kidney and bone tumors (hyperparathyroidism jaw tumor syndrome), or alone (familial isolated hyperparathyroidism). This study describes the development and validation of rapid scanning for mutations in two tumor suppressor genes linked to familial...

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Topics

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Share to Chromatography, Liquid
Share to DNA, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Hyperparathyroidism, Primary

Share to Multiple Endocrine Neoplasia Type 1

Share to Parathyroid Neoplasms

Share to Polymorphism, Single-Stranded Conformational

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 17065424
DOI: 10.2353/jmoldx.2006.060015
PMCID: PMC1876168

Genes

MEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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