Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements

BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder that can be an autosomal-dominant, autosomal-recessive, or X-linked disease. The most common autosomal-dominant form of the disease derives from mutations in the SPAST gene. METHODS: The aim of thi...

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Detalles Bibliográficos
Autores principales: Braschinsky, Mark, Tamm, Riin, Beetz, Christian, Sachez-Ferrero, Elena, Raukas, Elve, Lüüs, Siiri-Merike, Gross-Paju, Katrin, Boillot, Catherine, Canzian, Federico, Metspalu, Andres, Haldre, Sulev
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841126/
https://www.ncbi.nlm.nih.gov/pubmed/20214791
http://dx.doi.org/10.1186/1471-2377-10-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841126/
https://www.ncbi.nlm.nih.gov/pubmed/20214791
http://dx.doi.org/10.1186/1471-2377-10-17

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