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

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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
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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