Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.

doi:10.1359/jbmr.1999.14.2.230

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Article

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 1999

Williamson C, Cavaco B M, Jauch A, Dixon P H, Forbes S, Harding B, Holtgreve-Grez H, Schoell B, Pereira M C, Font A P, Loureiro M M, Sobrinho L G, Santos M A, Thakker R V, Jausch A

Abstract excerpt

A Portuguese kindred with autosomal dominant isolated primary hyperparathyroidism (HPT) that was associated with parathyroid adenomas and carcinomas was investigated with the aim of determining the chromosomal location of this gene, designated HPTPort. Leukocyte DNA from 9 affected and 16 unaffec...

Topics

Adenoma
Alleles
Carcinoma
Chromosome Mapping
Chromosomes, Human, Pair 1
Female
Genes, Dominant
Genes, Tumor Suppressor
Genetic Linkage
Humans
Hyperparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Heterozygosity

Male

Nucleic Acid Hybridization

Parathyroid Neoplasms

Pedigree

Portugal

Source

Open in PubMed

Identifiers

PMID: 9933477
DOI: 10.1359/jbmr.1999.14.2.230

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9933477-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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