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A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family
Muhammad Sher, Muhammad Farooq, Uzma Abdullah, Zafar Ali, Sanam Faryal, Mohammad Zakaria, Farid Ullah, Hassan Bukhari, Rikke S. Møller, Niels Tommerup, Shahid Mahmood Baig*
*Corresponding author af dette arbejde