Article
First preimplantation genetic testing case for monogenic disease in Latvia.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jan 2017
Perminov Dmitry, Voložonoka Ludmila, Korņejeva Liene, Jokste-Pțmane Evija, Blumberga Arita, Krasucka Sandra, Seimuškina Nellija, Kovaļova Irina, Fodina Violeta
Abstract excerpt
Huntington's disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease,...
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