Truncating mutation in intracellular phospholipase A(1) gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

BACKGROUND: Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described either as uncomplicated (or pure), or complicated where in addition to spasticity and weakness of lower extremeties, additional neu...

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Publicado en:BMC Res Notes
Autores principales: Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2015
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4482296/
https://ncbi.nlm.nih.gov/pubmed/26113134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-015-1227-4
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