SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V-Reference-Cited by-同舟云学术

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

Published:2013-03 Issue:3 Volume:83 Page:257-262
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Sánchez-Ferrero E,Coto E,Beetz C,Gámez J,Corao AI,Díaz M,Esteban J,del Castillo E,Moris G,Infante J,Menéndez M,Pascual-Pascual SI,López de Munaín A,Garcia-Barcina MJ,Alvarez V

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01896.x/fullpdf

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3. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms;Salinas;Lancet Neurol,2008

4. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35);Dick;Hum Mutat,2010

5. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1;Dursun;Neurogenetics,2009

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