European Journal of Human Genetics

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

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

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