Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

@article{Ganesamoorthy2009DevelopmentOA,
  title={Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.},
  author={Devika Ganesamoorthy and Damien L. Bruno and Jacqueline Schoumans and Elsdon Storey and Martin B. Delatycki and Danqing Zhu and Morgan K Wei and Garth A. Nicholson and R. J. McKinlay Gardner and Howard Robert Slater},
  journal={Clinical chemistry},
  year={2009},
  volume={55 7},
  pages={1415-8}
}
BACKGROUND Spinocerebellar ataxia type 15 (SCA15) is a slowly progressive neurodegenerative disorder characterized by cerebellar ataxia. Mutation of the ITPR1 gene (inositol 1,4,5-triphosphate receptor, type 1) has been identified recently as the underlying cause, and in most cases the molecular defect is a multiexon deletion. To date, 5 different SCA15 families have been identified with ITPR1 gene deletion. METHODS We have designed a synthetic, dual-color multiplex ligation-dependent probe… CONTINUE READING

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A new dominantly inherited pure cerebellar ataxia, SCA 30.

Journal of neurology, neurosurgery, and psychiatry • 2009

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