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Additional file 2: of Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Additional file 2: of Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Authors :
Alrayes, Nuha
Mohamoud, Hussein
Musharraf Jelani
Ahmad, Saleem
Vadgama, Nirmal
Bakur, Khadijah
Simpson, Michael
Al-Aama, Jumana
Nasir, Jamal
Publication Year :
2015
Publisher :
Figshare, 2015.

Abstract

Table S2. Clinical comparison of three SPG54 families with pR287X mutation. The detailed clinical phenotype identified in our family is compared with two previously reported families with the same mutation in DDHD2.

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....74ddc99ef0a5e65aa77757125de63ed6
Full Text :
https://doi.org/10.6084/m9.figshare.c.3614948_d2