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

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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986262/
https://ncbi.nlm.nih.gov/pubmed/19172990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.234
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