Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort.

Autor: Janani DM; Department of Genetic Engineering, Faculty of Engineering and Technology, SRM Institute of Science and Technology, SRM Nagar, Kattankulathur, Chennai, 603 203, India., Ramasubramanyan S; Department of Biochemistry and Cell Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, 600 006, India., Chellappa V; Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Solna, 171 77, Stockholm, Sweden., Santhanam R; Department of Genetic Engineering, Faculty of Engineering and Technology, SRM Institute of Science and Technology, SRM Nagar, Kattankulathur, Chennai, 603 203, India., Manickam R; SRM-DBT Platform for Advanced Life Science Technologies, SRM Institute of Science and Technology, Chennai, Tamil Nadu, 603 203, India., Shameli J; Department of Genetic Engineering, Faculty of Engineering and Technology, SRM Institute of Science and Technology, SRM Nagar, Kattankulathur, Chennai, 603 203, India., Balasundaram U; Department of Genetic Engineering, Faculty of Engineering and Technology, SRM Institute of Science and Technology, SRM Nagar, Kattankulathur, Chennai, 603 203, India. sundaram.usha@gmail.com.

Publikováno v: Journal of human genetics [J Hum Genet] 2023 Jan; Vol. 68 (1), pp. 39-46. Date of Electronic Publication: 2022 Oct 26.