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Paper Details

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
BMC Med Genet
10
2018
Author NameAffiliation
Alexis BriceInstitut du Cerveau et de la Moelle epiniere, INSERM U1127, CNRS UMR7225, Sorbonne Universites, UPMC Universite Paris VI UMR_S1127
Alexis BriceAPHP Pitie-Salpetriere Hospital
Giovanni StevaninInstitut du Cerveau et de la Moelle epiniere, INSERM U1127, CNRS UMR7225, Sorbonne Universites, UPMC Universite Paris VI UMR_S1127
Giovanni StevaninPSL research university
Giovanni StevaninAPHP Pitie-Salpetriere Hospital
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