Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations | Zendy

Conceição Pereira | Zendy; José L. Loureiro | Zendy; Jorge PintoBasto | Zendy; Eva Brandão | Zendy; Ana M. Lopes | Zendy; Georgieves | Zendy; Pureza Dias | Zendy; Ruth Geraldes | Zendy; Isabel Pavão Martins | Zendy; Vítor Tedim Cruz | Zendy; ErikJan Kamsteeg | Zendy; Han G. Brunner | Zendy; Paula Coutinho | Zendy; Jorge Sequeiros | Zendy; Isabel Alonso | Zendy

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Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

Author(s) -

Conceição Pereira,

José L. Loureiro,

Jorge PintoBasto,

Eva Brandão,

Ana M. Lopes,

Georgieves,

Pureza Dias,

Ruth Geraldes,

Isabel Pavão Martins,

Vítor Tedim Cruz,

ErikJan Kamsteeg,

Han G. Brunner,

Paula Coutinho,

Jorge Sequeiros,

Isabel Alonso

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2011.7

Subject(s) - hereditary spastic paraplegia , genetics , exon , gene , locus (genetics) , biology , spastic , mutation , medicine , phenotype , cerebral palsy , psychiatry

Hereditary spastic paraplegias compose a group of neurodegenerative disorders with a large clinical and genetic heterogeneity. Among the autosomal recessive forms, spastic paraplegia type 11 is the most common.

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