Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes.

doi:10.1210/jcem.85.6.6620

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Article

Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes.

The Journal of clinical endocrinology and metabolism - 1 Jun 2000

Jan de Beur S M, Ding C L, LaBuda M C, Usdin T B, Levine M A

Abstract excerpt

Pseudohypoparathyroidism 1b (PHP 1b) is characterized by specific resistance of target tissues to PTH, but no mutations in the PTH/PTH-related peptide (PTHrP) receptor gene have been identified. To investigate the basis for defective PTH signaling, we used polymorphic markers in or near the genes encoding PTH and its receptors to perform linkage analysis between these loci and PHP 1b. Two multiplex PHP 1b...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 2
Exons
Female
Genetic Linkage
Genetic Markers
Genotype
Humans
Introns
Male
Parathyroid Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Polymorphism, Genetic

Pseudohypoparathyroidism

Receptor, Parathyroid Hormone, Type 1

Receptors, Parathyroid Hormone

Source

Open in PubMed

Identifiers

PMID: 10852457
DOI: 10.1210/jcem.85.6.6620

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