Novel gene PUS3 c.A212G mutation in Ukrainian family with intellectual disability

• Published in: Вiopolymers and Cell
• Date: 2015
• Main Authors: Gulkovskyi, R.V., Chernushyn, S.Y., Livshits, L.A.
• Format: Article
• Language: English
• Published: Інститут молекулярної біології і генетики НАН України 2015
• Subjects: Biomedicine
• Online Access: https://nasplib.isofts.kiev.ua/handle/123456789/152443
• Journal Title: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Cite this: Novel gene PUS3 c.A212G mutation in Ukrainian family with intellectual disability / R.V. Gulkovskyi, S.Y. Chernushyn, L.A. Livshits // Вiopolymers and Cell. — 2015. — Т. 31, № 2. — С. 123-130. — Бібліогр.: 35 назв. — англ.

Aim. To evaluate a possible role of a novel c.A212G substitution in the PUS3 gene at intellectual disability (ID). Methods. The observed group consisted of the ID Ukrainian family members (parents and two affected children) and the control group – of 300 healthy individuals from general population o...