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    Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

    Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family by Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin

    Published 2018
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