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

Por 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
Publicado em 2009

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

Por Bliznetz, Elena A, Lalayants, Maria R, Markova, Tatiana G, Balanovsky, Oleg P, Balanovska, Elena V, Skhalyakho, Roza A, Pocheshkhova, Elvira A, Nikitina, Natalya V, Voronin, Sergey V, Kudryashova, Elena K, Glotov, Oleg S, Polyakov, Alexander V
Publicado no J Hum Genet (2017)