- Title
- Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
- Creators - without role
- Liena E. O. Elsayed - University of KhartoumInaam N. Mohammed - University of KhartoumAhlam A. A. Hamed - University of KhartoumMaha A. Elseed - University of KhartoumMustafa A. M. Salih - King Saud UniversityAshraf Yahia - University of KhartoumRayan A. Siddig - University of KhartoumMutaz Amin - University of KhartoumMahmoud Koko - University of KhartoumMustafa I. Elbashir - University of KhartoumMuntaser E. Ibrahim - University of KhartoumAlexis Brice - Institut du CerveauAmmar E. Ahmed - University of KhartoumGiovanni Stevanin - Institut du Cerveau
- Publication Details
- BMC medical genetics, Vol.19(1), pp.72-72
- Publisher
- BioMed Central
- Grant note
- ;
- Identifiers
- 9927529208331
- Academic Unit
- Princess Nourah bint Abdulrahman University; King Saud University
- Language
- English
- Resource Type
- Journal article
Journal article
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
BMC medical genetics, Vol.19(1), pp.72-72
08/05/2018
PMCID: PMC5941609
PMID: 29739362
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