Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.

Zaki, M S; Selim, L; Mansour, L; Mahmoud, I G; Fenstermaker, A G; Gabriel, S B; Gleeson, J G

Zaki, M S; Selim, L; Mansour, L; Mahmoud, I G; Fenstermaker, A G; Gabriel, S B; Gleeson, J G.

Affiliation

Zaki MS; Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Selim L; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
Mansour L; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
Mahmoud IG; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
Fenstermaker AG; Neurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
Gabriel SB; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.
Gleeson JG; Neurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.

Clin Genet ; 88(1): 95-7, 2015 Jul.

Article in En | MEDLINE | ID: mdl-25496456

Subject(s)

Mixed Function Oxygenases/genetics; Mutation; Neurodegenerative Diseases/genetics; Paraparesis, Spastic/genetics; Adolescent; Arabs/genetics; Child; Child, Preschool; DNA Mutational Analysis; Female; Homozygote; Humans; Male; Neurodegenerative Diseases/diagnosis; Paraparesis, Spastic/diagnosis; Pedigree; Phenotype

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodegenerative Diseases / Paraparesis, Spastic / Mixed Function Oxygenases / Mutation Type of study: Diagnostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2015 Type: Article Affiliation country: Egypt

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