Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family

J Dermatol Sci. 2016 Apr;82(1):46-8. doi: 10.1016/j.jdermsci.2015.12.012. Epub 2015 Dec 31.

¹ Department of Biology and Institute of Basic Sciences, Sungshin Women's University, Seoul, Republic of Korea.
² Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
³ Haemtology Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
⁴ Deptment of Biochemistry, Abdul Wali Khan University, Mardan, Khyber Pakhtunkhwa, Pakistan.
⁵ Medical Genetics Research Lab, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
⁶ Department of Biology and Institute of Basic Sciences, Sungshin Women's University, Seoul, Republic of Korea. Electronic address: ckang@sungshin.ac.kr.
⁷ Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan. Electronic address: mjelani@kau.edu.sa.

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