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

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

Author:

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

Tübinger Autor(en):

Koko, Mahmoud

Published in:

Bmc Medical Genetics (2018), Bd. 19, Article 9:72

Verlagsangabe:

Biomed Central Ltd

Language:

English

Full text:

http://dx.doi.org/10.1186/s12881-018-0592-y

ISSN:

1471-2350