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Article

Differential methylation as a cause of allele dropout at the imprinted GNAS locus.

Genetic testing and molecular biomarkers - 1 Aug 2010

Tomaz Rute A, Cavaco Branca M, Leite Valeriano

Abstract excerpt

INTRODUCTION: We detected false homozygosity at the NESP55 differentially methylated region of the imprinted GNAS locus while analyzing the segregation of single-nucleotide polymorphisms (SNPs) in families with pseudohypoparathyroidism type Ib (PHP-Ib). We hypothesized that differential methylation of NESP55 could affect polymerase chain reaction (PCR) amplification, resulting in allele dropout. METHODS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20642365
DOI: 10.1089/gtmb.2010.0029

Genes

GNAS

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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