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Article

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

European journal of human genetics : EJHG - 1 May 2009

Bliznetz Elena A, Tverskaya Svetlana M, Zinchenko Rena A, Abrukova Anna V, Savaskina Ekaterina N, Nikulin Maxim V, Kirillov Alexander G, Ginter Evgeny K, Polyakov Alexander V

Abstract excerpt

The rare malignant disorder autosomal recessive osteopetrosis (OPTB) is one of the most prevalent autosomal recessive diseases in the Chuvash Republic of Russia. The purpose of this study was to determine the underlying molecular cause of osteopetrosis in Chuvashiya and to reveal the factors causing the unusual high frequency of the disease in this region. Having assumed a founder effect, we performed linkage...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Open in PubMed Open full text

Identifiers

PMID: 19172990
DOI: 10.1038/ejhg.2008.234
PMCID: PMC2986262

Genes

TCIRG1

Variants

Provenance

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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