Back to Search Start Over

Additional file 3: of NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Additional file 3: of NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

Authors :
Elsaid, Mahmoud
Ibrahim, Khalid
Chalhoub, Nader
Elsotouhy, Ahmed
Mudehki, Noora El
Aleem, Alice Abdel
Publication Year :
2017
Publisher :
Figshare, 2017.

Abstract

NT5C2 mutations reported in NT5C2-associated HSP cases. (DOCX 17 kb)

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....1cdc1f8418607632a03589f6f76f5170
Full Text :
https://doi.org/10.6084/m9.figshare.c.3723079_d3.v1