Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.

López, Eva; Casasnovas, Carlos; Giménez, Javier; Matilla-Dueñas, Antoni; Sánchez, Ivelisse; Volpini, Víctor

López, Eva; Casasnovas, Carlos; Giménez, Javier; Matilla-Dueñas, Antoni; Sánchez, Ivelisse; Volpini, Víctor.

Affiliation

López E; Centre de Diagnòstic Genètic i Molecular (CDGM)-Institut de Recerca Biomèdica de Bellvitge (IDIBELL), Gran Via 199, 08907, L'Hospitalet de Llobregat, Barcelona, Spain, etoledano@idibell.cat.

Neurogenetics ; 16(2): 97-105, 2015 Apr.

Article in En | MEDLINE | ID: mdl-25398481

Subject(s)

Alu Elements; Gene Rearrangement; Metalloendopeptidases/genetics; Mutation; ATPases Associated with Diverse Cellular Activities; Aged; Female; Homozygote; Humans; Male; Paraplegia/genetics; Pedigree; Spastic Paraplegia, Hereditary/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Metalloendopeptidases / Gene Rearrangement / Alu Elements / Mutation Type of study: Risk_factors_studies Limits: Aged / Female / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2015 Type: Article

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