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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 (BMC Medical Genetics, 2018)

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Author
- Ahmed, Ammar E. (1)
- Amin, Mutaz (1)
- Brice, Alexis (1)
- Elbashir, Mustafa I. (1)
- Elsayed, Liena E. O. (1)
- Elseed, Maha A. (1)
- Hamed, Ahlam A. A. (1)
- Ibrahim, Muntaser E. (1)
- Koko, Mahmoud (1)
- Mohammed, Inaam N. (1)
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Subject
- Infantile neuroaxonal dystrophy, (1)
- PL A2G6 (1)
- Sudan (1)
- Whole exome sequencing (1)
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Date Issued
- 2018 (1)
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- Yes (1)