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

Elsayed, Liena E. O.; Mohammed, Inaam N.; Hamed, Ahlam A. A.; Elseed, Maha A.; Salih, Mustafa A. M.; Yahia, Ashraf; Siddig, Rayan A.; Amin, Mutaz; Koko, Mahmoud; Elbashir, Mustafa I.; Ibrahim, Muntaser E.; Brice, Alexis; Ahmed, Ammar E.; Stevanin, Giovanni

期刊名称BMC Medical Genetics
作者Elsayed, Liena E. O.; Mohammed, Inaam N.; Hamed, Ahlam A. A.; Elseed, Maha A.; Salih, Mustafa A. M.; Yahia, Ashraf; Siddig, Rayan A.; Amin, Mutaz; Koko, Mahmoud; Elbashir, Mustafa I.; Ibrahim, Muntaser E.; Brice, Alexis; Ahmed, Ammar E.; Stevanin, Giovanni
卷第19卷
期第1期
电子ISSN1471-2350
文件大小892.85KB
发表时间2018-12
DOI10.1186/s12881-018-0592-y

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