Estimation of the mutation age c.1621C>T p.(Gln541*) in the <i>FYCO1</i> gene responsible for the development of autosomal recessive congenital cataract in the Yakut population

The main cause of congenital or juvenile cataract with autosomal recessive inheritance in Yakutia is the c.1621C&gt;T p.(Gln541*) nonsense mutation in the exon 8 of the FYCO1 gene. Previous studies have shown that the c.1621C&gt;T p.(Gln541*) mutation has spread to the territory of Yakutia as a resu...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	T. V. Borisova, V. G. Pshennikova, F. M. Teryutin, A. V. Solovyov, G. P. Romanov, S. A. Fedorova, N. A. Barashkov
Aineistotyyppi:	Artigo
Kieli:	Russo
Julkaistu:	Yakut Science Center of Complex Medical Problems 2025-02-01
Sarja:	Якутский медицинский журнал
Aiheet:	congenital autosomal recessive cataract ctrct18 c.1621c> t (p.gln541*) fyco1 yakuts founder effect eastern siberia
Linkit:	https://ymj.elpub.ru/jour/article/view/114
Tagit:	Lisää tagi Ei tageja, Lisää ensimmäinen tagi!