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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.
Eur J Hum Genet. 2009 May;17(5):664-72. doi: 10.1038/ejhg.2008.234. Epub 2009 Jan 28.
Eur J Hum Genet. 2009.
PMID: 19172990
Free PMC article.
[Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes].
Stepanova AA, Abrukova AV, Savaskina EN, Poliakov AV.
Stepanova AA, et al. Among authors: savaskina en.
Genetika. 2012 Jul;48(7):863-71.
Genetika. 2012.
PMID: 22988772
Russian.
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