Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

BACKGROUND: Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. METHOD: Targeted-next generation sequencing using...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Res Notes
Prif Awduron: Bohlega, Saeed A., Al-Mubarak, Bashayer R., Alyemni, Eman A., Abouelhoda, Mohamed, Monies, Dorota, Mustafa, Abeer E., Khalil, Dania S., Al Haibi, Sara, Abou Al-Shaar, Hussam, Faquih, Tariq, El-Kalioby, Mohamed, Tahir, Asma I., Al Tassan, Nada A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2016
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4897907/
https://ncbi.nlm.nih.gov/pubmed/27268037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-016-2102-7
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